Variant report

Variant	rs12672518
Chromosome Location	chr7:128312975-128312976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:128312900-128313322	K562	blood:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
2	CTCF	chr7:128312949-128313337	K562	blood:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
3	CTCF	chr7:128312956-128313391	K562	blood:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
4	RAD21	chr7:128312971-128313375	SK-N-SH_RA	brain:	n/a	chr7:128313160-128313179
5	MAX	chr7:128312949-128313359	K562	blood:	n/a	n/a
6	CTCF	chr7:128312880-128313030	RPTEC	kidney:	n/a	n/a
7	POLR2A	chr7:128312684-128313100	SK-N-SH	brain:	n/a	n/a
8	NRF1	chr7:128312941-128313306	H1-hESC	embryonic stem cell:	n/a	n/a
9	NRF1	chr7:128312781-128313798	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:128312737-128313867	U87	brain:	n/a	n/a
11	RFX5	chr7:128312822-128313253	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:128312815-128313728	A549	lung:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
13	ZNF143	chr7:128312881-128313340	H1-hESC	embryonic stem cell:	n/a	chr7:128313101-128313119
14	SMC3	chr7:128312970-128313377	K562	blood:	n/a	n/a
15	POLR2A	chr7:128311889-128314146	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr7:128312940-128313090	A549	lung:	n/a	n/a
17	CTCF	chr7:128312860-128313010	WI-38	lung:	n/a	n/a
18	CTCF	chr7:128312709-128313560	SK-N-SH	brain:	n/a	chr7:128313162-128313180 chr7:128312804-128312812 chr7:128313164-128313177 chr7:128312803-128312811 chr7:128313163-128313179
19	POLR2A	chr7:128312851-128313439	GM12891	blood:	n/a	n/a
20	POLR2A	chr7:128312872-128313865	A549	lung:	n/a	n/a
21	CUX1	chr7:128312923-128313118	K562	blood:	n/a	n/a
22	POLR2A	chr7:128311980-128313921	HepG2	liver:	n/a	n/a
23	CTCF	chr7:128312922-128313337	A549	lung:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
24	CTCF	chr7:128312868-128313357	K562	blood:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
25	CTCF	chr7:128312972-128313366	GM12878	blood:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
26	RAD21	chr7:128312902-128313431	H1-hESC	embryonic stem cell:	n/a	chr7:128313372-128313386 chr7:128313160-128313179
27	POLR2A	chr7:128312676-128313609	GM12891	blood:	n/a	n/a
28	CTCF	chr7:128312934-128313399	MCF-7	breast:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
29	CTCF	chr7:128312840-128312990	HMEC	breast:	n/a	n/a
30	CTCF	chr7:128312948-128313380	H1-hESC	embryonic stem cell:	n/a	chr7:128313162-128313180 chr7:128313164-128313177 chr7:128313163-128313179
31	POLR2A	chr7:128312907-128313029	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr7:128312880-128313588	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:128312691-128313867	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128311765..128313824-chr7:128325788..128328720,2	K562	blood:
2	chr7:128306825..128310882-chr7:128311566..128316462,4	MCF-7	breast:
3	chr7:128312643..128313601-chr7:128519833..128520755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241493	TF binding region
ENSG00000241493	Chromatin interaction
ENSG00000270810	Chromatin interaction
ENSG00000135253	Chromatin interaction
ENSG00000271553	Chromatin interaction

Extended variants
information (count: 195 )
Associated
traits (count: 34 )

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs1003241	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10085580	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10215560	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10215566	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10215947	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10227728	0.81[ASN][1000 genomes]
rs10229874	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10237278	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10276417	0.87[ASN][1000 genomes]
rs10464537	0.87[EUR][1000 genomes]
rs10464538	0.87[EUR][1000 genomes]
rs10954193	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10954194	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954195	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1109552	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11971248	0.91[EUR][1000 genomes]
rs11975784	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977129	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979586	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12667202	0.88[EUR][1000 genomes]
rs12670258	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670432	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12671767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672443	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12672529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672940	0.83[EUR][1000 genomes]
rs12673048	0.84[EUR][1000 genomes]
rs12673060	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12673998	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674125	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706856	0.85[ASN][1000 genomes]
rs12706857	0.84[ASN][1000 genomes]
rs13438170	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1450874	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169024	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17169357	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169368	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169609	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17533628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809082	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839593	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1839594	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1970827	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1970828	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290229	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2402907	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2443110	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213979	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34614236	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35394926	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857849	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3896308	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3927852	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3931943	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077398	0.84[EUR][1000 genomes]
rs4079001	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4079003	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4260830	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4554406	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4562239	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4579449	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4728123	0.84[EUR][1000 genomes]
rs4728128	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728130	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731482	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731484	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4731486	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4731488	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731492	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731494	0.86[ASN][1000 genomes]
rs4731496	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731500	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4731501	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731503	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731504	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731505	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731506	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55860694	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55978216	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55982013	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56030011	0.88[EUR][1000 genomes]
rs56052829	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56060467	0.81[EUR][1000 genomes]
rs56111366	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56189614	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56208431	0.80[EUR][1000 genomes]
rs56278047	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56329625	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56333646	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56916616	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56946745	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57226192	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57370656	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57653865	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57886720	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58123072	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58133562	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58961149	0.84[EUR][1000 genomes]
rs59066415	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59154282	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59594227	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60229418	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60473286	0.87[EUR][1000 genomes]
rs60515997	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60781570	0.86[EUR][1000 genomes]
rs60804557	0.84[EUR][1000 genomes]
rs61146845	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61312980	0.88[EUR][1000 genomes]
rs61318942	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61544090	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61738927	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62479751	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62479756	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62479757	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481868	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481869	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481873	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481883	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481890	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481892	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481895	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481897	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481901	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481902	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481906	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481907	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481926	0.85[AMR][1000 genomes]
rs62481938	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62481939	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62481940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483286	0.86[EUR][1000 genomes]
rs62483293	0.82[EUR][1000 genomes]
rs62483298	0.86[EUR][1000 genomes]
rs62483302	0.88[EUR][1000 genomes]
rs62483305	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483342	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62483348	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62483363	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62483364	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483366	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483368	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6467185	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467186	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467188	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467189	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467194	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467195	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467196	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467197	0.85[EUR][1000 genomes]
rs6467198	0.85[EUR][1000 genomes]
rs6467202	0.86[ASN][1000 genomes]
rs6467203	0.88[ASN][1000 genomes]
rs6467204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467209	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467210	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67602452	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6945126	0.87[ASN][1000 genomes]
rs6945532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6950635	0.86[EUR][1000 genomes]
rs6954284	0.90[EUR][1000 genomes]
rs6954404	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6958788	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6969528	0.86[EUR][1000 genomes]
rs6969554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6973969	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6974153	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6978887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6979304	0.82[ASN][1000 genomes]
rs73233862	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73236020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73236037	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7385007	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7385683	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7781695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786336	0.88[EUR][1000 genomes]
rs7792915	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7793136	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7797745	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802149	0.83[EUR][1000 genomes]
rs9640850	0.84[EUR][1000 genomes]
rs9641823	0.85[EUR][1000 genomes]
rs9641824	0.84[EUR][1000 genomes]
rs9641826	0.87[EUR][1000 genomes]
rs9641827	0.82[EUR][1000 genomes]
rs9690747	0.80[EUR][1000 genomes]
rs9801409	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:34)

SNP	Gene	Cis/trans	Tissue	Source
rs12672518	RP11-274B21.10	cis	Whole Blood	GTEx
rs12672518	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs12672518	RP11-274B21.1	cis	Artery Tibial	GTEx
rs12672518	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs12672518	RP11-274B21.4	cis	lung	GTEx
rs12672518	RP11-274B21.2	cis	Esophagus Muscularis	GTEx
rs12672518	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs12672518	RP11-274B21.1	cis	Thyroid	GTEx
rs12672518	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs12672518	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs12672518	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs12672518	RP11-274B21.2	cis	Artery Tibial	GTEx
rs12672518	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs12672518	RP11-274B21.1	cis	Whole Blood	GTEx
rs12672518	RP11-274B21.9	cis	Esophagus Mucosa	GTEx
rs12672518	RP11-274B21.1	cis	Stomach	GTEx
rs12672518	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs12672518	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs12672518	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs12672518	RP11-274B21.1	cis	lung	GTEx
rs12672518	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs12672518	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs12672518	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs12672518	RP11-274B21.4	cis	Artery Tibial	GTEx
rs12672518	RP11-274B21.4	cis	Stomach	GTEx
rs12672518	RP11-274B21.1	cis	Esophagus Muscularis	GTEx
rs12672518	RP11-274B21.2	cis	lung	GTEx
rs12672518	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs12672518	RP11-274B21.2	cis	Stomach	GTEx
rs12672518	RP11-274B21.4	cis	Whole Blood	GTEx
rs12672518	RP11-274B21.1	cis	Artery Aorta	GTEx
rs12672518	RP11-274B21.4	cis	Thyroid	GTEx
rs12672518	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs12672518	RP11-274B21.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128319600	Weak transcription	NHLF	lung
2	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
7	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
8	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
11	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
12	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
17	chr7:128302400-128337200	Weak transcription	Gastric	stomach
18	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
20	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:128303600-128319400	Weak transcription	Fetal Brain Female	brain
22	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
23	chr7:128305400-128317600	Weak transcription	Osteobl	bone
24	chr7:128307200-128313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:128308400-128323800	Weak transcription	A549	lung
26	chr7:128309000-128323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:128310000-128319600	Weak transcription	Adipose Nuclei	Adipose
28	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:128310600-128323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:128311000-128313200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:128311200-128318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:128311200-128319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:128311200-128327000	Weak transcription	HSMM	muscle
34	chr7:128311400-128313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:128311600-128327800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:128311800-128313400	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:128312000-128313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:128312000-128313400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:128312000-128313400	Enhancers	Lung	lung
40	chr7:128312200-128313800	Enhancers	Psoas Muscle	Psoas
41	chr7:128312200-128318200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:128312200-128322800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:128312400-128313200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:128312400-128325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:128312600-128325400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:128312800-128313000	Enhancers	K562	blood
47	chr7:128312800-128313200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:128312800-128313200	Enhancers	HepG2	liver
49	chr7:128312800-128313400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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