Variant report

Variant	rs4971073
Chromosome Location	chr1:155113104-155113105
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	RCOR1	chr1:155112607-155113188	HepG2	liver:	n/a	n/a
2	SRF	chr1:155112922-155113168	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:155112826-155113186	HepG2	liver:	n/a	n/a
4	GABPA	chr1:155112715-155113282	H1-hESC	embryonic stem cell:	n/a	chr1:155113036-155113043
5	TAF1	chr1:155112833-155113220	H1-neurons	neurons:	n/a	n/a
6	SREBP2	chr1:155112136-155113422	GM12878	blood:	n/a	n/a
7	SP1	chr1:155112712-155113252	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:155112226-155113249	GM12891	blood:	n/a	n/a
9	RCOR1	chr1:155112759-155113146	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:155112009-155113289	K562	blood:	n/a	n/a
11	CTCF	chr1:155112949-155113119	Spleen_OC	spleen:	n/a	n/a
12	YY1	chr1:155112540-155113271	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3A	chr1:155112267-155113238	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:155112896-155113213	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr1:155112555-155113268	A549	lung:	n/a	n/a
16	POLR2A	chr1:155112186-155113262	PBDE	blood:	n/a	n/a
17	POLR2A	chr1:155112586-155113298	NB4	blood:	n/a	n/a
18	POLR2A	chr1:155112423-155113179	GM19193	blood:	n/a	n/a
19	GABPA	chr1:155112403-155113256	GM12878	blood:	n/a	chr1:155113036-155113043
20	PAX5	chr1:155112915-155113208	GM12892	blood:	n/a	n/a
21	BCLAF1	chr1:155112608-155113218	GM12878	blood:	n/a	n/a
22	PBX3	chr1:155112656-155113321	A549	lung:	n/a	n/a
23	POLR2A	chr1:155112137-155113185	K562	blood:	n/a	n/a
24	UBTF	chr1:155112280-155113176	K562	blood:	n/a	n/a
25	SMC3	chr1:155112317-155113222	Hela-S3	cervix:	n/a	n/a
26	TBP	chr1:155112297-155113168	K562	blood:	n/a	n/a
27	TAF1	chr1:155112294-155113283	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:155112056-155113251	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr1:155112336-155113264	SK-N-SH	brain:	n/a	chr1:155113212-155113221
30	ETS1	chr1:155112757-155113221	GM12878	blood:	n/a	chr1:155113059-155113066 chr1:155113037-155113048 chr1:155113058-155113071 chr1:155113012-155113029 chr1:155113057-155113070
31	ZNF143	chr1:155112542-155113264	H1-hESC	embryonic stem cell:	n/a	chr1:155113058-155113067 chr1:155113051-155113069 chr1:155113060-155113069 chr1:155113046-155113065
32	ZC3H11A	chr1:155112864-155113222	K562	blood:	n/a	n/a
33	POLR2A	chr1:155112255-155113268	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:155112622-155113201	GM12892	blood:	n/a	n/a
35	ELF1	chr1:155112834-155113204	HepG2	liver:	n/a	chr1:155113039-155113048
36	GABPA	chr1:155112271-155113484	A549	lung:	n/a	chr1:155113036-155113043
37	POLR2A	chr1:155112388-155113282	HEK293	kidney:	n/a	n/a
38	BCL3	chr1:155112646-155113271	A549	lung:	n/a	n/a
39	BACH1	chr1:155113003-155113226	K562	blood:	n/a	n/a
40	YY1	chr1:155112716-155113226	GM12878	blood:	n/a	n/a
41	REST	chr1:155112770-155113141	PANC-1	pancreas:	n/a	n/a
42	YY1	chr1:155112378-155113254	K562	blood:	n/a	n/a
43	PML	chr1:155112091-155113189	K562	blood:	n/a	n/a
44	TCF12	chr1:155112578-155113282	ECC-1	luminal epithelium:	n/a	n/a
45	UBTF	chr1:155112319-155113199	K562	blood:	n/a	n/a
46	SIN3A	chr1:155112596-155113229	GM12878	blood:	n/a	n/a
47	TEAD4	chr1:155112075-155113279	K562	blood:	n/a	n/a
48	GABPA	chr1:155112413-155113292	Hela-S3	cervix:	n/a	chr1:155113036-155113043
49	MAX	chr1:155112668-155113209	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr1:155112787-155113229	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
2	chr1:155111495..155114008-chr1:155163515..155166006,3	K562	blood:
3	chr1:28836222..28836935-chr1:155112458..155113199,2	Hela-S3	cervix:
4	chr1:155052471..155058946-chr1:155106509..155113930,10	K562	blood:
5	chr1:155106166..155110794-chr1:155110873..155115238,14	K562	blood:

Variant related genes	Relation type
DPM3	TF binding region
RNU7-150P	TF binding region
ENSG00000271748	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000180198	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1001848	0.85[JPT][hapmap]
rs10157801	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10908454	0.85[JPT][hapmap]
rs10908455	0.85[JPT][hapmap]
rs10908456	0.85[JPT][hapmap]
rs10908458	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11264306	0.85[JPT][hapmap]
rs11264314	0.82[JPT][hapmap]
rs11264319	0.85[JPT][hapmap]
rs11264329	0.85[JPT][hapmap]
rs11264333	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11264337	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs11264338	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs11264339	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs11799962	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12025371	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12028043	0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs12040970	0.85[JPT][hapmap]
rs12127609	0.80[ASN][1000 genomes]
rs12145362	0.92[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap]
rs12904	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1462855	0.85[JPT][hapmap]
rs1870939	0.85[JPT][hapmap]
rs2066981	0.80[CHD][hapmap]
rs2075571	0.93[CHB][hapmap];0.86[CHD][hapmap]
rs2306124	0.85[JPT][hapmap]
rs3765087	0.85[JPT][hapmap]
rs3766916	0.85[JPT][hapmap]
rs3814316	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap]
rs4072037	0.87[CHD][hapmap]
rs4246529	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4276913	0.92[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.80[ASN][1000 genomes]
rs4390169	0.85[ASN][1000 genomes]
rs4421576	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs4460629	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs4745	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4845407	0.85[JPT][hapmap]
rs4845408	0.85[JPT][hapmap]
rs4971052	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4971059	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap]
rs4971066	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4971076	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4971079	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4971085	0.86[CHB][hapmap]
rs4971088	0.86[CHB][hapmap]
rs4971100	0.93[CHB][hapmap];0.94[CHD][hapmap]
rs6427158	0.85[JPT][hapmap]
rs6665822	0.85[JPT][hapmap]
rs6693477	0.85[JPT][hapmap]
rs7364524	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7365544	0.85[JPT][hapmap]
rs7367207	0.85[JPT][hapmap]
rs7367897	0.85[JPT][hapmap]
rs7368345	0.85[JPT][hapmap]
rs7534162	0.85[JPT][hapmap]
rs7548955	0.82[JPT][hapmap]
rs7556304	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs9297	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9426886	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
7	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155110600-155113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:155111000-155113400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:155111600-155113400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155111600-155113400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:155111600-155113400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:155111600-155113400	Active TSS	Colonic Mucosa	Colon
7	chr1:155111600-155113400	Active TSS	K562	blood
8	chr1:155111800-155113200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:155111800-155113200	Active TSS	HSMM	muscle
10	chr1:155111800-155113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155111800-155113400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:155111800-155113400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:155111800-155113400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:155111800-155113400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:155111800-155113400	Active TSS	Fetal Intestine Small	intestine
16	chr1:155112000-155113200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:155112000-155113200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:155112000-155113200	Flanking Active TSS	Placenta	Placenta
19	chr1:155112000-155113200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:155112000-155113200	Active TSS	NHDF-Ad	bronchial
21	chr1:155112000-155113200	Active TSS	Osteobl	bone
22	chr1:155112000-155113400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:155112000-155113400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:155112000-155113400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:155112000-155113400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:155112000-155113400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:155112000-155113400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:155112000-155113400	Active TSS	Psoas Muscle	Psoas
29	chr1:155112000-155113400	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:155112000-155113400	Active TSS	Right Ventricle	heart
31	chr1:155112000-155113400	Active TSS	A549	lung
32	chr1:155112000-155113400	Active TSS	HSMMtube	muscle
33	chr1:155112000-155113400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:155112000-155113400	Active TSS	NHLF	lung
35	chr1:155112200-155113200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155112200-155113200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155112200-155113200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:155112200-155113200	Active TSS	Brain Hippocampus Middle	brain
39	chr1:155112200-155113200	Flanking Active TSS	Fetal Thymus	thymus
40	chr1:155112200-155113200	Active TSS	Left Ventricle	heart
41	chr1:155112200-155113200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr1:155112200-155113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:155112200-155113400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:155112200-155113400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:155112200-155113400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:155112200-155113400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:155112200-155113400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:155112200-155113400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:155112200-155113400	Active TSS	Fetal Kidney	kidney
50	chr1:155112200-155113400	Active TSS	Pancreas	Pancrea

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