Variant report

Variant	rs1873311
Chromosome Location	chr1:151962222-151962223
allele	A/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	CEBPB	chr1:151961629-151962361	Hela-S3	cervix:	n/a	chr1:151962142-151962155
2	MAX	chr1:151960617-151963779	A549	lung:	n/a	chr1:151961086-151961095 chr1:151961087-151961096
3	MAFK	chr1:151961706-151962335	Hela-S3	cervix:	n/a	chr1:151962063-151962078
4	NR3C1	chr1:151961944-151962391	A549	lung:	n/a	chr1:151962088-151962095
5	ZBTB33	chr1:151961746-151962329	A549	lung:	n/a	n/a
6	EP300	chr1:151960311-151962501	A549	lung:	n/a	chr1:151961087-151961096 chr1:151961086-151961095
7	POLR2A	chr1:151961485-151962443	SK-N-SH	brain:	n/a	n/a
8	NFYA	chr1:151961777-151962289	Hela-S3	cervix:	n/a	n/a
9	FOXM1	chr1:151960397-151963953	MCF-7	breast:	n/a	n/a
10	FOS	chr1:151961927-151962328	MCF10A-Er-Src	breast:	n/a	chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162
11	FOSL1	chr1:151961845-151962482	HCT-116	colon:	n/a	chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162
12	CEBPB	chr1:151961680-151962303	A549	lung:	n/a	chr1:151962142-151962155
13	FOS	chr1:151961929-151962339	MCF10A-Er-Src	breast:	n/a	chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162
14	POLR2A	chr1:151960317-151966352	A549	lung:	n/a	n/a
15	EP300	chr1:151960391-151962577	A549	lung:	n/a	chr1:151961087-151961096 chr1:151961086-151961095
16	ZKSCAN1	chr1:151960876-151962347	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr1:151961689-151962411	MCF10A-Er-Src	breast:	n/a	chr1:151962107-151962116 chr1:151961794-151961806 chr1:151962162-151962174 chr1:151961804-151961816
18	STAT3	chr1:151961949-151962424	Hela-S3	cervix:	n/a	chr1:151962107-151962116 chr1:151962162-151962174
19	SIN3AK20	chr1:151960681-151962486	A549	lung:	n/a	n/a
20	FOXM1	chr1:151961728-151963267	ECC-1	luminal epithelium:	n/a	n/a
21	PBX3	chr1:151961617-151962455	SK-N-SH	brain:	n/a	n/a
22	SIX5	chr1:151960563-151962539	A549	lung:	n/a	n/a
23	NFYB	chr1:151961962-151962296	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr1:151961633-151962279	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr1:151960751-151962804	Hela-S3	cervix:	n/a	n/a
26	USF1	chr1:151961504-151962330	A549	lung:	n/a	n/a
27	GATA3	chr1:151960407-151962898	A549	lung:	n/a	chr1:151961857-151961864 chr1:151962190-151962198 chr1:151961085-151961094 chr1:151960706-151960715 chr1:151960570-151960580 chr1:151960706-151960715 chr1:151960697-151960714 chr1:151960703-151960719
28	JUND	chr1:151960346-151963703	SK-N-SH	brain:	n/a	chr1:151961085-151961092 chr1:151961085-151961097 chr1:151962152-151962162 chr1:151961086-151961096 chr1:151962152-151962162 chr1:151961087-151961096 chr1:151961088-151961095 chr1:151962152-151962162 chr1:151961087-151961095 chr1:151962152-151962162 chr1:151960908-151960919 chr1:151961085-151961096
29	JUND	chr1:151961666-151962352	Hela-S3	cervix:	n/a	chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162
30	NFIC	chr1:151961888-151963030	ECC-1	luminal epithelium:	n/a	n/a
31	FOSL2	chr1:151960676-151962454	SK-N-SH	brain:	n/a	chr1:151961085-151961092 chr1:151961085-151961097 chr1:151962152-151962162 chr1:151961086-151961096 chr1:151962152-151962162 chr1:151961087-151961096 chr1:151961088-151961095 chr1:151962152-151962162 chr1:151961087-151961095 chr1:151962152-151962162 chr1:151960908-151960919
32	USF2	chr1:151961671-151962268	Hela-S3	cervix:	n/a	n/a
33	NFIC	chr1:151960714-151962607	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr1:151960212-151963985	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:151960197-151968028	U87	brain:	n/a	n/a
36	SIN3AK20	chr1:151961979-151962370	SK-N-SH	brain:	n/a	n/a
37	ELF1	chr1:151960617-151963862	MCF-7	breast:	n/a	n/a
38	SMARCC1	chr1:151960746-151962644	Hela-S3	cervix:	n/a	chr1:151961087-151961096
39	CEBPB	chr1:151961732-151962338	A549	lung:	n/a	chr1:151962142-151962155
40	SIN3AK20	chr1:151961501-151962389	A549	lung:	n/a	n/a
41	POLR2A	chr1:151961618-151962449	Gliobla	brain:	n/a	n/a
42	TEAD4	chr1:151961904-151963004	ECC-1	luminal epithelium:	n/a	chr1:151962717-151962726
43	POLR2A	chr1:151962076-151962392	MCF-7	breast:	n/a	n/a
44	FOS	chr1:151961847-151962382	MCF10A-Er-Src	breast:	n/a	chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162 chr1:151962152-151962162
45	BCL3	chr1:151960611-151962513	A549	lung:	n/a	chr1:151961086-151961095 chr1:151961087-151961096
46	JUND	chr1:151960706-151962538	HCT-116	colon:	n/a	chr1:151961085-151961092 chr1:151961085-151961097 chr1:151962152-151962162 chr1:151961086-151961096 chr1:151962152-151962162 chr1:151961087-151961096 chr1:151961088-151961095 chr1:151962152-151962162 chr1:151961087-151961095 chr1:151962152-151962162 chr1:151960908-151960919 chr1:151961085-151961096
47	POLR2A	chr1:151960902-151962468	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:151960823-151962943	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr1:151962035-151962357	SK-N-SH_RA	brain:	n/a	n/a
50	GATA3	chr1:151960388-151963881	MCF-7	breast:	n/a	chr1:151961857-151961864 chr1:151962190-151962198 chr1:151961085-151961094 chr1:151960706-151960715 chr1:151960570-151960580 chr1:151960706-151960715 chr1:151960697-151960714 chr1:151960703-151960719

No.	Distal block	Cell Line	Cell type
1	chr1:151962033..151964445-chr15:74939477..74941082,2	MCF-7	breast:
2	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
3	chr1:151960436..151963988-chr1:151965129..151968097,4	K562	blood:
4	chr1:151961486..151963073-chr4:87925886..87928690,2	MCF-7	breast:
5	chr1:151512000..151514294-chr1:151960120..151963735,4	MCF-7	breast:
6	chr1:151429705..151431670-chr1:151961220..151963038,2	MCF-7	breast:
7	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
8	chr1:151957047..151958820-chr1:151961380..151963425,2	K562	blood:
9	chr1:151961871..151962780-chr12:27863710..27864238,2	Hela-S3	cervix:
10	chr1:151958312..151964069-chr1:151964449..151968550,6	K562	blood:
11	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
12	chr1:151912465..151914455-chr1:151961361..151962875,2	K562	blood:
13	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
14	chr1:151484691..151486621-chr1:151962085..151964758,2	MCF-7	breast:
15	chr1:151903606..151908213-chr1:151959560..151963672,4	MCF-7	breast:
16	chr1:151864865..151867501-chr1:151960955..151964248,3	MCF-7	breast:
17	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
18	chr1:151955991..151958464-chr1:151959511..151962330,2	K562	blood:
19	chr1:151917185..151918906-chr1:151960945..151963030,3	MCF-7	breast:

Variant related genes	Relation type
NBPF18P	TF binding region
ENSG00000197747	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000061794	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10158030	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1038746	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1038748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1048910	0.82[AFR][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788814	0.82[AFR][1000 genomes]
rs10788816	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10888449	0.87[AFR][1000 genomes]
rs10888453	1.00[CHB][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11204923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11578030	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1473493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490187	1.00[CHB][hapmap]
rs1490188	0.81[ASN][1000 genomes]
rs1490190	0.87[AFR][1000 genomes]
rs1490191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1496037	1.00[CHB][hapmap]
rs1532132	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552605	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552606	1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes]
rs1552607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1602246	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1602248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17583707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1826170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1826171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1826172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1844542	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1873310	1.00[CHB][hapmap]
rs1873312	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs1967084	0.84[ASN][1000 genomes]
rs1967085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1979638	0.88[CEU][hapmap];0.84[ASN][1000 genomes]
rs2087550	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2130526	0.87[AFR][1000 genomes]
rs2338018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2338203	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2338204	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs2338210	0.82[AMR][1000 genomes]
rs2932563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932564	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932567	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2932572	0.81[ASN][1000 genomes]
rs2932573	0.81[ASN][1000 genomes]
rs2932578	0.83[AFR][1000 genomes]
rs2932584	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2932585	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2932588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999509	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2999511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2999514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999519	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2999520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999523	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2999524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999527	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999530	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2999535	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2999538	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007682	0.83[AFR][1000 genomes]
rs3007690	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3007692	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3007693	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3007699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3007700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3007701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3007714	0.84[ASN][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3748805	0.87[AFR][1000 genomes]
rs3762427	0.82[AFR][1000 genomes]
rs4845385	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs4845388	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845393	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845660	1.00[CHB][hapmap]
rs4845664	1.00[CHB][hapmap]
rs4845699	0.87[AFR][1000 genomes]
rs61113720	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap]
rs6587629	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs6587630	1.00[CHB][hapmap]
rs6587641	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659029	1.00[CHB][hapmap]
rs6662463	0.82[AFR][1000 genomes]
rs6685291	1.00[CHB][hapmap]
rs6690443	0.82[AFR][1000 genomes]
rs6691350	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs6704157	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7529451	1.00[CHB][hapmap]
rs7532721	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs971888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9943225	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs994974	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151949200-151963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:151958600-151963800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:151959200-151964200	Enhancers	Placenta	Placenta
4	chr1:151959200-151964200	Weak transcription	Dnd41	blood
5	chr1:151959800-151962600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:151960200-151963000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:151960400-151962400	Flanking Active TSS	Hela-S3	cervix
8	chr1:151960400-151962600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:151960400-151963200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:151960400-151963600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:151960400-151964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:151960400-151964200	Enhancers	Left Ventricle	heart
13	chr1:151960400-151964800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:151960400-151964800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:151960400-151964800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:151960400-151965000	Enhancers	Small Intestine	intestine
17	chr1:151960400-151965600	Transcr. at gene 5' and 3'	NHEK	skin
18	chr1:151960400-151965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:151960400-151965800	Transcr. at gene 5' and 3'	A549	lung
20	chr1:151960600-151962800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:151960600-151962800	Flanking Active TSS	HMEC	breast
22	chr1:151960600-151963000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:151960600-151963600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:151960600-151963600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:151960600-151964200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:151960600-151964400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:151960600-151965000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:151960600-151965400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:151960600-151965600	Flanking Active TSS	NH-A	brain
30	chr1:151960800-151962600	Enhancers	Psoas Muscle	Psoas
31	chr1:151960800-151962600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr1:151960800-151963200	Enhancers	Right Ventricle	heart
33	chr1:151960800-151964000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:151960800-151964200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:151960800-151964200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:151960800-151965000	Flanking Active TSS	HUVEC	blood vessel
37	chr1:151960800-151966000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:151961000-151962400	Genic enhancers	Fetal Stomach	stomach
39	chr1:151961000-151962400	Flanking Active TSS	Osteobl	bone
40	chr1:151961000-151962600	Enhancers	Right Atrium	heart
41	chr1:151961000-151963400	Enhancers	Ovary	ovary
42	chr1:151961000-151963400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:151961000-151963600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:151961000-151963600	Enhancers	Gastric	stomach
45	chr1:151961000-151964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:151961000-151964200	Enhancers	Fetal Muscle Leg	muscle
47	chr1:151961000-151964800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:151961000-151965000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:151961200-151962400	Flanking Active TSS	HSMMtube	muscle
50	chr1:151961200-151962600	Enhancers	Lung	lung

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