Variant report

Variant	rs6721680
Chromosome Location	chr2:172543913-172543914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:406)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:172543671-172544801	K562	blood:	n/a	n/a
2	USF1	chr2:172543794-172544048	A549	lung:	n/a	n/a
3	YY1	chr2:172543708-172544933	GM12878	blood:	n/a	chr2:172544578-172544592
4	E2F4	chr2:172543792-172544029	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF263	chr2:172543772-172545002	HEK293-T-REx	kidney:	n/a	n/a
6	MAX	chr2:172543706-172545032	NB4	blood:	n/a	chr2:172544519-172544528
7	IRF1	chr2:172543749-172544548	K562	blood:	n/a	n/a
8	CTCF	chr2:172543780-172543930	GM12866	blood:	n/a	n/a
9	ZBTB33	chr2:172543805-172544440	A549	lung:	n/a	n/a
10	POLR2A	chr2:172543531-172545071	HUVEC	blood vessel:	n/a	n/a
11	GTF2F1	chr2:172543538-172544469	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:172543660-172544568	GM12878	blood:	n/a	n/a
13	REST	chr2:172543625-172544581	HepG2	liver:	n/a	n/a
14	BCLAF1	chr2:172543676-172544508	GM12878	blood:	n/a	n/a
15	SIN3A	chr2:172543707-172545130	H1-hESC	embryonic stem cell:	n/a	chr2:172544636-172544649
16	MYC	chr2:172543773-172544275	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:172543773-172544760	K562	blood:	n/a	n/a
18	RUNX3	chr2:172543634-172544997	GM12878	blood:	n/a	n/a
19	RELA	chr2:172543769-172544569	GM18951	blood:	n/a	n/a
20	MYC	chr2:172543756-172544850	K562	blood:	n/a	chr2:172544519-172544528
21	TAF1	chr2:172543776-172544708	A549	lung:	n/a	n/a
22	USF1	chr2:172543754-172544408	A549	lung:	n/a	chr2:172544370-172544381
23	TBL1XR1	chr2:172543711-172544788	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:172543591-172544735	SK-N-MC	brain:	n/a	n/a
25	BHLHE40	chr2:172543750-172544458	GM12878	blood:	n/a	n/a
26	MAX	chr2:172543785-172544474	HepG2	liver:	n/a	n/a
27	SIX5	chr2:172543694-172544568	GM12878	blood:	n/a	chr2:172543877-172543891 chr2:172543914-172543923 chr2:172543879-172543888 chr2:172543881-172543890
28	TAF1	chr2:172543758-172544457	H1-neurons	neurons:	n/a	n/a
29	MAX	chr2:172543794-172544262	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr2:172543643-172544550	HepG2	liver:	n/a	n/a
31	TBL1XR1	chr2:172543679-172544893	K562	blood:	n/a	n/a
32	YY1	chr2:172543714-172544698	GM12892	blood:	n/a	chr2:172544578-172544592
33	MAFK	chr2:172543531-172544499	K562	blood:	n/a	n/a
34	REST	chr2:172543726-172544654	A549	lung:	n/a	n/a
35	MYC	chr2:172543913-172543975	K562	blood:	n/a	n/a
36	POLR2A	chr2:172543752-172544878	K562	blood:	n/a	n/a
37	FOXA1	chr2:172543681-172544576	HepG2	liver:	n/a	n/a
38	CREB1	chr2:172543493-172544973	K562	blood:	n/a	n/a
39	ELK4	chr2:172543838-172544180	HEK293	kidney:	n/a	chr2:172544066-172544077 chr2:172544008-172544019
40	ELF1	chr2:172543656-172544640	SK-N-SH	brain:	n/a	chr2:172544473-172544485
41	ELK1	chr2:172543730-172544398	Hela-S3	cervix:	n/a	n/a
42	STAT3	chr2:172543841-172543997	MCF10A-Er-Src	breast:	n/a	chr2:172543921-172543929 chr2:172543919-172543930
43	MYBL2	chr2:172543419-172544690	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:172543710-172544992	GM12891	blood:	n/a	n/a
45	TBP	chr2:172543704-172544912	K562	blood:	n/a	n/a
46	SPI1	chr2:172543840-172544127	K562	blood:	n/a	n/a
47	POLR2A	chr2:172543806-172544784	K562	blood:	n/a	n/a
48	POLR2A	chr2:172543811-172545004	U87	brain:	n/a	n/a
49	YY1	chr2:172543733-172544922	SK-N-SH_RA	brain:	n/a	chr2:172544578-172544592
50	POLR2A	chr2:172543697-172544588	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172543905-172543955	Hepatocyte	liver:	n/a
2	chr2:172543902-172543952	HCT-116	colon:	n/a
3	chr2:172543902-172543952	HNPCEpiC	eye:	n/a
4	chr2:172543902-172543952	Caco-2	colon:	n/a
5	chr2:172543905-172543955	HRCEpiC	kidney:	n/a
6	chr2:172543902-172543952	AG09319	gingival:	n/a
7	chr2:172543905-172543955	PrEC	prostate:	n/a
8	chr2:172543905-172543955	Jurkat	blood:	n/a
9	chr2:172543905-172543955	HCF	heart:	n/a
10	chr2:172543902-172543952	LNCaP	prostate:	n/a
11	chr2:172543905-172543955	NT2-D1	testis:	n/a
12	chr2:172543902-172543952	AG10803	skin:	n/a
13	chr2:172543902-172543952	IMR90	lung:	fetal
14	chr2:172543902-172543952	CMK	blood:	n/a
15	chr2:172543905-172543955	GM12878	blood:	n/a
16	chr2:172543902-172543952	PANC-1	pancreas:	n/a
17	chr2:172543902-172543952	NT2-D1	testis:	n/a
18	chr2:172543902-172543952	Hepatocyte	liver:	n/a
19	chr2:172543905-172543955	HRPEpiC	eye:	n/a
20	chr2:172543902-172543952	HAEpiC	amniotic membrane:	n/a
21	chr2:172543905-172543955	CMK	blood:	n/a
22	chr2:172543905-172543955	AG10803	skin:	n/a
23	chr2:172543902-172543952	SAEC	small airway:	n/a
24	chr2:172543905-172543955	ProgFib	skin:	n/a
25	chr2:172543902-172543952	NHDF-neo	bronchial:	n/a
26	chr2:172543905-172543955	K562	blood:	n/a
27	chr2:172543905-172543955	H1-hESC	embryonic stem cell:	embryo
28	chr2:172543902-172543952	NB4	blood:	n/a
29	chr2:172543905-172543955	SK-N-SH	brain:	n/a
30	chr2:172543905-172543955	A549	lung:	n/a
31	chr2:172543902-172543952	NH-A	brain:	n/a
32	chr2:172543905-172543955	PFSK-1	brain:	n/a
33	chr2:172543902-172543952	T-47D	breast:	n/a
34	chr2:172543905-172543955	HMEC	breast:	n/a
35	chr2:172543905-172543955	AG09319	gingival:	n/a
36	chr2:172543902-172543952	MCF-7	breast:	n/a
37	chr2:172543902-172543952	SKMC	muscle:	n/a
38	chr2:172543902-172543952	HRE	kidney:	n/a
39	chr2:172543905-172543955	HCPEpiC	choroid plexus:	n/a
40	chr2:172543905-172543955	HepG2	liver:	n/a
41	chr2:172543902-172543952	AG04450	lung:	fetal
42	chr2:172543902-172543952	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:172543902-172543952	ECC-1	luminal epithelium:	n/a
44	chr2:172543902-172543952	ovcar-3	ovarian:	n/a
45	chr2:172543905-172543955	PANC-1	pancreas:	n/a
46	chr2:172543905-172543955	SKMC	muscle:	n/a
47	chr2:172543905-172543955	SAEC	small airway:	n/a
48	chr2:172543905-172543955	NHDF-neo	bronchial:	n/a
49	chr2:172543905-172543955	IMR90	lung:	fetal
50	chr2:172543905-172543955	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172543765..172545467-chr2:172749369..172751686,2	MCF-7	breast:
2	chr2:172542927..172544505-chr2:172566367..172569318,2	K562	blood:
3	chr2:172287753..172291848-chr2:172543733..172546489,4	K562	blood:

No data

Variant related genes	Relation type
DYNC1I2	TF binding region
DYNC1I2	CpG island
ENSG00000077380	Chromatin interaction
ENSG00000268821	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10166005	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10167419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10174525	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10184866	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10200608	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10201419	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10204502	0.85[AMR][1000 genomes]
rs10204622	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10206062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10207085	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10497374	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10803863	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1113389	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11678984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11886820	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11897196	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11904009	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12053003	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12185567	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12692970	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12692973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12692974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12692978	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000153	0.81[GIH][hapmap]
rs13017585	0.87[GIH][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13018768	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022113	0.89[EUR][1000 genomes]
rs13419987	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13429113	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429409	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1474074	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1554166	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1973706	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292815	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2357061	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2674484	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678155	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs312916	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs312918	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs312919	0.90[AMR][1000 genomes]
rs312921	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs312924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358700	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34542126	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35379278	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35391289	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35549875	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35645520	0.80[AMR][1000 genomes]
rs35854280	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36057702	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770445	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3770452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3795999	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821095	0.86[YRI][hapmap]
rs4667693	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667694	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668407	0.84[EUR][1000 genomes]
rs4668412	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668414	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433311	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433314	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66835971	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6705200	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6709156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710698	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67204065	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6722757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724337	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6725388	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs6738445	0.92[CEU][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6745143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6757773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6758704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71013062	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7355523	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7355594	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7562356	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572215	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573003	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7586207	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7597387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604918	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7608403	0.87[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs908670	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs908671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs973889	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6721680	AC068039.4	cis	Esophagus Muscularis	GTEx
rs6721680	AC068039.4	cis	Whole Blood	GTEx
rs6721680	AC068039.4	cis	Muscle Skeletal	GTEx
rs6721680	AC068039.4	cis	Heart Left Ventricle	GTEx
rs6721680	AC068039.4	cis	Nerve Tibial	GTEx
rs6721680	AC068039.4	cis	Thyroid	GTEx
rs6721680	AC068039.4	cis	Stomach	GTEx
rs6721680	AC068039.4	cis	Skin Sun Exposed Lower leg	GTEx
rs6721680	SLC25A12	Cis_1M	lymphoblastoid	RTeQTL
rs6721680	AC068039.4	cis	Esophagus Mucosa	GTEx
rs6721680	AC068039.4	cis	Adipose Subcutaneous	GTEx
rs6721680	AC068039.4	cis	lung	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172543600-172544000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:172543600-172544000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:172543600-172544000	Enhancers	Fetal Heart	heart
4	chr2:172543600-172544000	Enhancers	Fetal Stomach	stomach
5	chr2:172543600-172544000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:172543600-172544000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr2:172543600-172544000	Enhancers	Stomach Mucosa	stomach
8	chr2:172543600-172544000	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:172543600-172544000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:172543600-172544000	Flanking Active TSS	NHEK	skin
11	chr2:172543600-172544000	Flanking Active TSS	Osteobl	bone
12	chr2:172543600-172544200	Flanking Bivalent TSS/Enh	Dnd41	blood
13	chr2:172543600-172544400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:172543600-172544800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr2:172543600-172544800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172543600-172544800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr2:172543600-172544800	Active TSS	Thymus	Thymus
18	chr2:172543600-172545000	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr2:172543600-172545200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:172543600-172545200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:172543600-172545200	Active TSS	Brain Angular Gyrus	brain
22	chr2:172543600-172545200	Active TSS	Brain Anterior Caudate	brain
23	chr2:172543600-172545200	Active TSS	Brain Cingulate Gyrus	brain
24	chr2:172543600-172545200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:172543600-172545200	Active TSS	Colon Smooth Muscle	Colon
26	chr2:172543600-172545200	Active TSS	A549	lung
27	chr2:172543600-172545200	Bivalent/Poised TSS	HepG2	liver
28	chr2:172543600-172545400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:172543600-172545400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:172543600-172545400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr2:172543600-172545400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:172543600-172545400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:172543600-172545400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:172543600-172545400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:172543600-172545400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:172543600-172545600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:172543600-172545600	Active TSS	Colonic Mucosa	Colon
38	chr2:172543600-172545600	Active TSS	Fetal Brain Male	brain
39	chr2:172543600-172545600	Active TSS	Fetal Lung	lung
40	chr2:172543600-172545600	Active TSS	Hela-S3	cervix
41	chr2:172543600-172545600	Active TSS	HMEC	breast
42	chr2:172543600-172545800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:172543600-172545800	Active TSS	NHLF	lung
44	chr2:172543600-172546000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:172543600-172546000	Active TSS	HSMM	muscle
46	chr2:172543600-172546200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:172543600-172546200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:172543600-172546200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:172543600-172546200	Active TSS	HSMMtube	muscle
50	chr2:172543600-172546400	Active TSS	Right Atrium	heart

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