Variant report

Variant	rs1951625
Chromosome Location	chr1:173836602-173836603
allele	C/T
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	BHLHE40	chr1:173836552-173838056	HepG2	liver:	n/a	chr1:173837842-173837858 chr1:173837832-173837848
2	POLR2A	chr1:173830742-173838152	GM18951	blood:	n/a	n/a
3	POLR2A	chr1:173834360-173838079	U87	brain:	n/a	n/a
4	MAX	chr1:173836527-173837947	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
5	ATF2	chr1:173836577-173837709	GM12878	blood:	n/a	n/a
6	SP1	chr1:173836590-173837579	H1-hESC	embryonic stem cell:	n/a	chr1:173837276-173837283 chr1:173837208-173837222 chr1:173837207-173837219 chr1:173837410-173837424 chr1:173837340-173837354 chr1:173837207-173837219 chr1:173837376-173837388 chr1:173837424-173837433 chr1:173837376-173837388 chr1:173837377-173837386
7	GTF2F1	chr1:173836449-173838074	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr1:173836377-173837374	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:173834874-173837687	IMR90	lung:	n/a	n/a
10	YY1	chr1:173836276-173838159	K562	blood:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
11	BRCA1	chr1:173836415-173837684	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr1:173836581-173838423	K562	blood:	n/a	chr1:173837842-173837858 chr1:173837832-173837848
13	TBL1XR1	chr1:173834693-173838215	K562	blood:	n/a	n/a
14	PML	chr1:173836599-173838190	MCF-7	breast:	n/a	n/a
15	CHD1	chr1:173835208-173838152	GM12878	blood:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
16	YY1	chr1:173836319-173838151	HepG2	liver:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
17	POLR2A	chr1:173828332-173838242	K562	blood:	n/a	n/a
18	SIN3AK20	chr1:173836166-173838356	K562	blood:	n/a	n/a
19	MYC	chr1:173834772-173838276	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
20	SP1	chr1:173836333-173838265	HCT-116	colon:	n/a	chr1:173837664-173837678 chr1:173837276-173837283 chr1:173837208-173837222 chr1:173837726-173837738 chr1:173837776-173837785 chr1:173837594-173837607 chr1:173837207-173837219 chr1:173837727-173837736 chr1:173837664-173837674 chr1:173837410-173837424 chr1:173837775-173837789 chr1:173837866-173837878 chr1:173837774-173837786 chr1:173837340-173837354 chr1:173837207-173837219 chr1:173837376-173837388 chr1:173837664-173837673 chr1:173837424-173837433 chr1:173837665-173837674 chr1:173837663-173837675 chr1:173837774-173837786 chr1:173837866-173837878 chr1:173837726-173837738 chr1:173837376-173837388 chr1:173837744-173837756 chr1:173837727-173837737 chr1:173837377-173837386
21	MAX	chr1:173836390-173838332	ECC-1	luminal epithelium:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
22	MTA3	chr1:173836438-173837346	GM12878	blood:	n/a	n/a
23	ATF2	chr1:173834423-173837701	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr1:173836568-173838332	K562	blood:	n/a	chr1:173837048-173837062 chr1:173837421-173837430 chr1:173837443-173837452 chr1:173837835-173837844 chr1:173837169-173837178
25	POLR2A	chr1:173834558-173837359	U87	brain:	n/a	n/a
26	POLR2A	chr1:173836264-173837744	HepG2	liver:	n/a	n/a
27	MYC	chr1:173836539-173837565	MCF-7	breast:	n/a	chr1:173837472-173837482
28	RUNX3	chr1:173836568-173838159	GM12878	blood:	n/a	n/a
29	KAP1	chr1:173835346-173837113	K562	blood:	n/a	n/a
30	CEBPD	chr1:173836563-173838038	K562	blood:	n/a	n/a
31	YY1	chr1:173836336-173838052	A549	lung:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
32	YY1	chr1:173836485-173838109	GM12878	blood:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
33	POLR2A	chr1:173836221-173837344	GM12891	blood:	n/a	n/a
34	RELA	chr1:173836323-173838131	GM15510	blood:	n/a	n/a
35	MAX	chr1:173836488-173838144	SK-N-SH	brain:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
36	MYC	chr1:173836595-173837573	HUVEC	blood vessel:	n/a	chr1:173837472-173837482
37	ELF1	chr1:173836283-173838271	GM12878	blood:	n/a	chr1:173837189-173837198 chr1:173837841-173837850 chr1:173837834-173837846 chr1:173837837-173837849 chr1:173837492-173837505 chr1:173837614-173837626
38	POLR2A	chr1:173825088-173838434	K562	blood:	n/a	n/a
39	SP1	chr1:173836497-173838178	A549	lung:	n/a	chr1:173837664-173837678 chr1:173837276-173837283 chr1:173837208-173837222 chr1:173837726-173837738 chr1:173837776-173837785 chr1:173837594-173837607 chr1:173837207-173837219 chr1:173837727-173837736 chr1:173837664-173837674 chr1:173837410-173837424 chr1:173837775-173837789 chr1:173837866-173837878 chr1:173837774-173837786 chr1:173837340-173837354 chr1:173837207-173837219 chr1:173837376-173837388 chr1:173837664-173837673 chr1:173837424-173837433 chr1:173837665-173837674 chr1:173837663-173837675 chr1:173837774-173837786 chr1:173837866-173837878 chr1:173837726-173837738 chr1:173837376-173837388 chr1:173837744-173837756 chr1:173837727-173837737 chr1:173837377-173837386
40	FOXM1	chr1:173836315-173838113	GM12878	blood:	n/a	n/a
41	ETS1	chr1:173836293-173838009	K562	blood:	n/a	chr1:173837421-173837432 chr1:173837764-173837777 chr1:173837450-173837459 chr1:173837834-173837845 chr1:173837841-173837852 chr1:173837776-173837787
42	POLR2A	chr1:173836251-173838135	GM12878	blood:	n/a	n/a
43	MYC	chr1:173836394-173838046	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
44	HEY1	chr1:173836132-173838161	HepG2	liver:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
45	SIN3AK20	chr1:173836465-173837239	A549	lung:	n/a	n/a
46	TCF12	chr1:173836168-173838421	A549	lung:	n/a	n/a
47	MYC	chr1:173836504-173838204	MCF10A-Er-Src	breast:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
48	IRF1	chr1:173836547-173838495	K562	blood:	n/a	chr1:173838401-173838413 chr1:173837724-173837738 chr1:173838367-173838374
49	JUND	chr1:173836551-173837183	H1-hESC	embryonic stem cell:	n/a	chr1:173837048-173837062 chr1:173837169-173837178
50	HEY1	chr1:173834548-173838164	K562	blood:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179

No.	Distal block	Cell Line	Cell type
1	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
2	chr1:173835490..173838465-chr17:37025563..37027348,2	K562	blood:
3	chr1:173835621..173837414-chr1:176175490..176177844,2	MCF-7	breast:
4	chr1:173835651..173839404-chr1:173878959..173883807,5	K562	blood:
5	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
6	chr1:173836251..173838308-chr1:174127483..174129757,2	MCF-7	breast:
7	chr1:173836202..173837150-chr7:23570721..23571306,2	Hela-S3	cervix:
8	chr1:173835440..173837685-chr1:236305367..236307138,2	MCF-7	breast:
9	chr1:173836570..173837114-chr11:567774..568352,2	Hela-S3	cervix:
10	chr1:173791090..173796578-chr1:173835400..173838797,13	MCF-7	breast:
11	chr1:173834700..173840265-chr1:173989829..173994040,12	K562	blood:
12	chr1:173836407..173838525-chr7:5566132..5567901,2	K562	blood:
13	chr1:173835088..173837217-chr1:173882626..173885539,2	K562	blood:
14	chr1:149857345..149859059-chr1:173835209..173837381,2	MCF-7	breast:
15	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
16	chr1:173833761..173839509-chr1:173990118..173994234,9	K562	blood:
17	chr1:173836457..173837447-chr6:17706214..17706964,2	Hela-S3	cervix:
18	chr1:173835611..173838091-chr17:39844795..39846421,2	MCF-7	breast:
19	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
20	chr1:173835310..173837065-chr22:22899988..22902691,2	K562	blood:
21	chr1:173409411..173411609-chr1:173835982..173838430,2	K562	blood:
22	chr1:173682287..173685888-chr1:173836010..173838228,4	MCF-7	breast:
23	chr1:173835391..173837802-chr1:174127164..174130207,3	MCF-7	breast:
24	chr1:173835653..173838766-chr1:174968504..174972418,4	K562	blood:
25	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
26	chr1:173835079..173837156-chr20:30194174..30197161,2	MCF-7	breast:
27	chr1:173835578..173837680-chr17:57914211..57916743,2	MCF-7	breast:
28	chr1:173835773..173836619-chr12:104350561..104351185,2	Hela-S3	cervix:
29	chr1:173835729..173840438-chr1:174127915..174131019,7	K562	blood:
30	chr1:173836321..173837263-chr15:44828452..44829299,2	Hela-S3	cervix:
31	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
32	chr1:173835118..173837073-chr1:173951885..173954734,2	K562	blood:
33	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
34	chr1:173836342..173837326-chr15:41913669..41914225,2	Hela-S3	cervix:
35	chr1:173792463..173795572-chr1:173835250..173839446,8	MCF-7	breast:
36	chr1:173835905..173838790-chr1:173929682..173932448,3	MCF-7	breast:
37	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:
38	chr1:173832421..173839801-chr1:173885332..173891780,9	MCF-7	breast:
39	chr1:173834428..173840700-chr1:173878764..173885322,14	MCF-7	breast:
40	chr1:173836321..173837254-chr19:51307613..51308582,2	Hela-S3	cervix:
41	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
42	chr1:173835691..173838464-chr11:65269329..65272327,2	K562	blood:
43	chr1:173835516..173837699-chr2:142887430..142889764,2	MCF-7	breast:
44	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
45	chr1:173833863..173839457-chr1:173910408..173918981,14	MCF-7	breast:
46	chr1:173806912..173810743-chr1:173835161..173838732,5	MCF-7	breast:
47	chr1:173835625..173838583-chr17:59475360..59477954,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINC1-1	chr1:173835315-173837219	NONHSAT007659

Variant related genes	Relation type
SNORD78	TF binding region
ZBTB37	TF binding region
GAS5	TF binding region
ENSG00000224977	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000220891	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000077585	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000164548	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000272269	Chromatin interaction
ENSG00000168702	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000124789	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000002834	Chromatin interaction
ENSG00000199038	Chromatin interaction
ENSG00000236021	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000236535	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000117601	Chromatin interaction
ENSG00000143207	Chromatin interaction
ENSG00000179523	Chromatin interaction
ENSG00000252231	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000174197	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000203739	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10912670	0.85[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10912671	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.88[ASN][1000 genomes]
rs12082131	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12086229	0.90[ASN][1000 genomes]
rs12561931	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12564699	0.90[ASN][1000 genomes]
rs12565915	0.93[ASN][1000 genomes]
rs12566945	0.90[ASN][1000 genomes]
rs1322774	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322780	0.80[MEX][hapmap]
rs16846439	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067079	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144708	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2208850	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227588	0.85[CHB][hapmap]
rs2227612	0.85[CHB][hapmap]
rs2273366	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.94[ASN][1000 genomes]
rs2281486	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295366	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804123	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791020	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45467799	0.90[ASN][1000 genomes]
rs4558043	0.90[ASN][1000 genomes]
rs4652283	0.85[CHB][hapmap]
rs4652298	0.85[CHB][hapmap]
rs4652328	0.85[CHB][hapmap]
rs55633896	0.93[ASN][1000 genomes]
rs55829688	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019876	0.94[ASN][1000 genomes]
rs56048122	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56138893	0.85[ASN][1000 genomes]
rs56369162	0.93[ASN][1000 genomes]
rs56928371	0.93[ASN][1000 genomes]
rs57799150	0.94[ASN][1000 genomes]
rs58287165	0.85[ASN][1000 genomes]
rs58825445	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59858609	0.85[ASN][1000 genomes]
rs60264384	0.93[ASN][1000 genomes]
rs61826805	0.85[ASN][1000 genomes]
rs61826806	0.85[ASN][1000 genomes]
rs61826809	0.85[ASN][1000 genomes]
rs61826810	0.85[ASN][1000 genomes]
rs61826812	0.88[ASN][1000 genomes]
rs61826813	0.88[ASN][1000 genomes]
rs61826821	0.94[ASN][1000 genomes]
rs61826856	0.94[ASN][1000 genomes]
rs61826857	0.92[ASN][1000 genomes]
rs61827860	0.94[ASN][1000 genomes]
rs61827861	0.94[ASN][1000 genomes]
rs61827863	0.93[ASN][1000 genomes]
rs61827865	0.91[ASN][1000 genomes]
rs61827867	0.93[ASN][1000 genomes]
rs61827870	0.93[ASN][1000 genomes]
rs61827876	0.94[ASN][1000 genomes]
rs61827877	0.94[ASN][1000 genomes]
rs61827881	0.94[ASN][1000 genomes]
rs61827925	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6413827	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6425253	0.81[ASN][1000 genomes]
rs6425258	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs6425261	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668702	0.90[ASN][1000 genomes]
rs6673175	0.90[ASN][1000 genomes]
rs6674381	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6681766	0.85[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs6691001	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696680	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7514556	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7515721	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7521884	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7530546	0.94[ASN][1000 genomes]
rs7546048	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7548171	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7552741	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9425416	0.93[ASN][1000 genomes]
rs9425431	0.85[CHB][hapmap]
rs9425433	0.85[CHB][hapmap]
rs9425745	0.89[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9425756	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9660881	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1951625	DARS2	cis	Muscle Skeletal	GTEx
rs1951625	RABGAP1L	cis	parietal	SCAN
rs1951625	DARS2	cis	cerebellum	SCAN
rs1951625	PRDX6	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173831800-173837000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:173832200-173837000	Transcr. at gene 5' and 3'	K562	blood
3	chr1:173832400-173837000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr1:173832800-173837000	Transcr. at gene 5' and 3'	A549	lung
5	chr1:173833000-173836800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:173833200-173836800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr1:173833200-173837000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr1:173833400-173837000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr1:173833600-173836800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
10	chr1:173833600-173836800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:173833600-173837000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:173833600-173837000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
13	chr1:173833800-173836800	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr1:173833800-173837000	Transcr. at gene 5' and 3'	NHEK	skin
15	chr1:173833800-173838000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:173834000-173836800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
17	chr1:173834200-173838400	Active TSS	Right Ventricle	heart
18	chr1:173834400-173838400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:173834600-173837000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:173834600-173837000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:173834600-173838600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:173834600-173838600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:173834800-173836800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:173835000-173838600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:173835400-173836800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:173835600-173838200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:173835600-173838200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:173835600-173838200	Active TSS	Lung	lung
29	chr1:173835600-173838200	Active TSS	Pancreas	Pancrea
30	chr1:173835600-173838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:173835600-173838600	Active TSS	Colonic Mucosa	Colon
32	chr1:173835800-173836800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:173835800-173837000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:173835800-173837400	Active TSS	Brain Germinal Matrix	brain
35	chr1:173835800-173838400	Active TSS	Esophagus	oesophagus
36	chr1:173835800-173838400	Active TSS	Psoas Muscle	Psoas
37	chr1:173835800-173838600	Active TSS	Thymus	Thymus
38	chr1:173836000-173837000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr1:173836000-173837000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:173836000-173837000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:173836000-173837000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:173836000-173837000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:173836000-173837200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:173836000-173838000	Active TSS	Fetal Kidney	kidney
45	chr1:173836000-173838000	Active TSS	Fetal Thymus	thymus
46	chr1:173836000-173838200	Active TSS	Gastric	stomach
47	chr1:173836000-173838200	Active TSS	Left Ventricle	heart
48	chr1:173836000-173838200	Active TSS	Small Intestine	intestine
49	chr1:173836000-173838400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:173836000-173838400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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