Variant report

Variant	rs1105165
Chromosome Location	chr3:195163917-195163918
allele	G/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	ELF1	chr3:195162866-195164279	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:195163148-195164463	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr3:195163619-195164266	K562	blood:	n/a	chr3:195163820-195163836 chr3:195164054-195164065 chr3:195163812-195163828
4	POLR2A	chr3:195163399-195164296	HUVEC	blood vessel:	n/a	n/a
5	UBTF	chr3:195162305-195164154	K562	blood:	n/a	n/a
6	MAX	chr3:195163917-195164233	K562	blood:	n/a	chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
7	SPI1	chr3:195163666-195163918	GM12891	blood:	n/a	n/a
8	CREB1	chr3:195163471-195164187	ECC-1	luminal epithelium:	n/a	n/a
9	GABPA	chr3:195163606-195164149	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:195163165-195164330	H1-neurons	neurons:	n/a	n/a
11	ATF1	chr3:195163564-195164159	K562	blood:	n/a	n/a
12	SP2	chr3:195163554-195164376	HepG2	liver:	n/a	chr3:195163850-195163865 chr3:195163854-195163863 chr3:195163905-195163928 chr3:195163922-195163932
13	PBX3	chr3:195163683-195164074	GM12878	blood:	n/a	chr3:195163907-195163927 chr3:195163922-195163931 chr3:195163813-195163822
14	RFX5	chr3:195163275-195164534	Hela-S3	cervix:	n/a	chr3:195163922-195163931
15	SIN3AK20	chr3:195163310-195164140	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr3:195163367-195164530	Hela-S3	cervix:	n/a	chr3:195164165-195164180
17	POLR2A	chr3:195163348-195163988	GM12892	blood:	n/a	n/a
18	TBP	chr3:195163485-195164364	GM12878	blood:	n/a	chr3:195164227-195164238
19	BRCA1	chr3:195163515-195164290	Hela-S3	cervix:	n/a	n/a
20	TBP	chr3:195163235-195164483	K562	blood:	n/a	chr3:195164227-195164238
21	NRF1	chr3:195163869-195164157	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr3:195163264-195164585	K562	blood:	n/a	chr3:195163353-195163371 chr3:195163472-195163482
23	USF1	chr3:195163827-195164315	A549	lung:	n/a	chr3:195164054-195164065
24	SP1	chr3:195163261-195164509	HCT-116	colon:	n/a	chr3:195163274-195163286 chr3:195164113-195164125 chr3:195163920-195163941 chr3:195163855-195163865 chr3:195163854-195163866 chr3:195163851-195163865 chr3:195163275-195163284 chr3:195163856-195163865 chr3:195163855-195163864 chr3:195163856-195163865 chr3:195164114-195164123 chr3:195164088-195164102 chr3:195163855-195163865 chr3:195164113-195164125 chr3:195163274-195163286 chr3:195163854-195163866
25	NFYB	chr3:195163586-195164346	K562	blood:	n/a	chr3:195163918-195163930 chr3:195163919-195163933 chr3:195163921-195163931 chr3:195163919-195163934 chr3:195163916-195163931 chr3:195163919-195163934
26	POLR2A	chr3:195162352-195164357	GM19099	blood:	n/a	n/a
27	USF1	chr3:195163771-195164212	GM12878	blood:	n/a	chr3:195163820-195163836 chr3:195164054-195164065 chr3:195163812-195163828
28	CREB1	chr3:195163775-195164084	A549	lung:	n/a	n/a
29	POLR2A	chr3:195163199-195164385	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr3:195163097-195164800	HepG2	liver:	n/a	n/a
31	STAT1	chr3:195163347-195164310	GM12878	blood:	n/a	chr3:195164051-195164058
32	MYBL2	chr3:195163430-195163952	HepG2	liver:	n/a	n/a
33	POLR2A	chr3:195162549-195164346	GM18526	blood:	n/a	n/a
34	PBX3	chr3:195163634-195164195	A549	lung:	n/a	chr3:195163907-195163927 chr3:195163922-195163931 chr3:195163813-195163822
35	SP4	chr3:195163587-195164122	H1-hESC	embryonic stem cell:	n/a	chr3:195163852-195163868 chr3:195163850-195163866
36	MAX	chr3:195162880-195164234	GM12878	blood:	n/a	chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195163172-195163182 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
37	FOS	chr3:195163560-195164131	Hela-S3	cervix:	n/a	chr3:195163923-195163932
38	GABPA	chr3:195163403-195164187	K562	blood:	n/a	n/a
39	POLR2A	chr3:195163411-195163956	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr3:195163411-195163943	GM12892	blood:	n/a	n/a
41	YY1	chr3:195163257-195164113	GM12892	blood:	n/a	chr3:195163424-195163438
42	SP2	chr3:195163580-195164128	K562	blood:	n/a	chr3:195163850-195163865 chr3:195163854-195163863 chr3:195163905-195163928 chr3:195163922-195163932
43	USF1	chr3:195163514-195164385	SK-N-SH	brain:	n/a	chr3:195163820-195163836 chr3:195164054-195164065 chr3:195163812-195163828
44	NFIC	chr3:195163536-195164200	GM12878	blood:	n/a	n/a
45	THAP1	chr3:195163699-195164188	K562	blood:	n/a	n/a
46	POLR2A	chr3:195162621-195164287	Hela-S3	cervix:	n/a	n/a
47	BHLHE40	chr3:195163235-195164588	GM12878	blood:	n/a	chr3:195163820-195163836 chr3:195163812-195163828
48	NRF1	chr3:195163385-195164306	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:195163358-195163939	GM12891	blood:	n/a	n/a
50	POLR2A	chr3:195163085-195164301	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195162201..195164559-chr3:195267983..195270079,2	MCF-7	breast:
2	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
3	chr3:194353939..194355661-chr3:195162594..195164351,2	MCF-7	breast:
4	chr1:180991614..180992139-chr3:195163272..195163974,2	Hela-S3	cervix:
5	chr3:195162578..195166480-chr3:195268710..195271525,3	K562	blood:
6	chr3:195139843..195142071-chr3:195162223..195164874,2	MCF-7	breast:
7	chr3:194997826..195001793-chr3:195162641..195164811,3	MCF-7	breast:
8	chr17:80415930..80416625-chr3:195163219..195164171,2	Hela-S3	cervix:
9	chr3:195163220..195164101-chr8:141521936..141522636,2	Hela-S3	cervix:
10	chr19:2475868..2476569-chr3:195163223..195164130,2	Hela-S3	cervix:
11	chr3:194991144..194993841-chr3:195162528..195164078,2	MCF-7	breast:
12	chr3:195163282..195164231-chr7:100026450..100027141,2	Hela-S3	cervix:
13	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:
14	chr19:12405012..12405883-chr3:195163461..195164141,2	Hela-S3	cervix:
15	chr1:108742953..108743702-chr3:195163392..195164127,2	Hela-S3	cervix:
16	chr19:48824592..48825377-chr3:195163259..195163954,2	Hela-S3	cervix:
17	chr2:97481962..97482603-chr3:195163221..195164183,2	Hela-S3	cervix:

Variant related genes	Relation type
ACAP2	TF binding region
ENSG00000223711	Chromatin interaction
ENSG00000197857	Chromatin interaction
ENSG00000105479	Chromatin interaction
ENSG00000104472	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000141562	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000114331	Chromatin interaction
ENSG00000207368	Chromatin interaction
ENSG00000085491	Chromatin interaction
ENSG00000142227	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000265458	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000145014	Chromatin interaction
ENSG00000135823	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10804414	0.87[ASN][1000 genomes]
rs1094677	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11706264	0.83[ASN][1000 genomes]
rs13059843	0.87[ASN][1000 genomes]
rs13062518	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13072826	0.82[ASN][1000 genomes]
rs13072883	1.00[CHB][hapmap]
rs13091924	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13099106	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs13324903	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1538767	1.00[CHB][hapmap]
rs2791603	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2948138	0.83[ASN][1000 genomes]
rs34308099	0.83[ASN][1000 genomes]
rs4677834	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4677835	0.81[AMR][1000 genomes]
rs55672262	0.87[ASN][1000 genomes]
rs55927338	0.87[ASN][1000 genomes]
rs6778719	0.86[ASN][1000 genomes]
rs6785964	0.89[ASN][1000 genomes]
rs7611238	1.00[CHB][hapmap]
rs7633265	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7634345	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7651757	0.81[ASN][1000 genomes]
rs823300	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823301	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823302	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823306	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs823310	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823311	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs823314	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs823535	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs931528	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs9823964	1.00[CHB][hapmap]
rs9840346	1.00[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv3445442	chr3:195162488-195165036	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195161200-195164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:195161200-195164200	Active TSS	GM12878-XiMat	blood
3	chr3:195161200-195164600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:195161400-195164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:195161400-195164200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:195161400-195164200	Active TSS	K562	blood
7	chr3:195161600-195164200	Active TSS	Muscle Satellite Cultured Cells	--
8	chr3:195161800-195164200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:195161800-195164200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:195161800-195164200	Active TSS	HMEC	breast
11	chr3:195161800-195164400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:195162000-195164200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:195162000-195164200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:195162000-195164200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:195162000-195164200	Active TSS	Brain Angular Gyrus	brain
16	chr3:195162000-195164200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:195162000-195164200	Active TSS	HSMM	muscle
18	chr3:195162000-195164400	Active TSS	Psoas Muscle	Psoas
19	chr3:195162000-195164400	Active TSS	NHDF-Ad	bronchial
20	chr3:195162000-195164600	Active TSS	Right Atrium	heart
21	chr3:195162200-195164000	Active TSS	Thymus	Thymus
22	chr3:195162200-195164200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:195162200-195164200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr3:195162200-195164200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:195162200-195164200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:195162200-195164200	Active TSS	Fetal Kidney	kidney
27	chr3:195162200-195164200	Active TSS	Fetal Stomach	stomach
28	chr3:195162200-195164200	Active TSS	Stomach Smooth Muscle	stomach
29	chr3:195162200-195164200	Active TSS	NHLF	lung
30	chr3:195162200-195164400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:195162200-195164400	Active TSS	Colonic Mucosa	Colon
32	chr3:195162200-195164400	Active TSS	Fetal Muscle Trunk	muscle
33	chr3:195162200-195164400	Active TSS	Ovary	ovary
34	chr3:195162200-195164400	Active TSS	Right Ventricle	heart
35	chr3:195162200-195164600	Active TSS	Aorta	Aorta
36	chr3:195162400-195164000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:195162400-195164200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:195162400-195164200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:195162400-195164200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr3:195162400-195164200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr3:195162400-195164200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:195162400-195164200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:195162400-195164200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr3:195162400-195164200	Active TSS	Brain Anterior Caudate	brain
45	chr3:195162400-195164200	Active TSS	Brain Cingulate Gyrus	brain
46	chr3:195162400-195164200	Active TSS	Brain Hippocampus Middle	brain
47	chr3:195162400-195164200	Active TSS	Brain Substantia Nigra	brain
48	chr3:195162400-195164200	Active TSS	Colon Smooth Muscle	Colon
49	chr3:195162400-195164200	Active TSS	Fetal Intestine Large	intestine
50	chr3:195162400-195164200	Active TSS	Fetal Intestine Small	intestine

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