Variant report

Variant	rs9847278
Chromosome Location	chr3:191047532-191047533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:191046911-191047997	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr3:191046901-191047555	K562	blood:	n/a	n/a
3	POLR2A	chr3:191046640-191047740	GM12878	blood:	n/a	n/a
4	TAF1	chr3:191046786-191048115	ECC-1	luminal epithelium:	n/a	n/a
5	MTA3	chr3:191046498-191047642	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:191046161-191048563	GM19193	blood:	n/a	n/a
7	POLR2A	chr3:191046702-191048304	GM15510	blood:	n/a	n/a
8	MAX	chr3:191046768-191048822	Hela-S3	cervix:	n/a	n/a
9	MAX	chr3:191046631-191048247	HepG2	liver:	n/a	n/a
10	MAX	chr3:191046819-191048142	H1-hESC	embryonic stem cell:	n/a	n/a
11	NFIC	chr3:191046860-191048212	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr3:191046869-191047975	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:191046886-191047885	MCF-7	breast:	n/a	n/a
14	ZBTB7A	chr3:191046684-191048113	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr3:191045952-191047725	PFSK-1	brain:	n/a	n/a
16	UBTF	chr3:191046822-191047554	K562	blood:	n/a	n/a
17	POLR2A	chr3:191046549-191048828	HUVEC	blood vessel:	n/a	n/a
18	RELA	chr3:191046517-191048835	GM18951	blood:	n/a	n/a
19	POLR2A	chr3:191046880-191047740	HUVEC	blood vessel:	n/a	n/a
20	HA-E2F1	chr3:191046077-191048374	MCF-7	breast:	n/a	chr3:191048046-191048058
21	POLR2A	chr3:191046404-191047614	K562	blood:	n/a	n/a
22	POLR2A	chr3:191046439-191048127	GM12878	blood:	n/a	n/a
23	RFX5	chr3:191046576-191049678	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr3:191046948-191047733	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr3:191047516-191048903	Hela-S3	cervix:	n/a	n/a
26	ZBTB7A	chr3:191047262-191047813	K562	blood:	n/a	n/a
27	YY1	chr3:191046809-191047796	HepG2	liver:	n/a	n/a
28	HCFC1	chr3:191046494-191047943	K562	blood:	n/a	n/a
29	POLR2A	chr3:191046555-191047599	HepG2	liver:	n/a	n/a
30	NR2F2	chr3:191046725-191047887	MCF-7	breast:	n/a	n/a
31	MAX	chr3:191046884-191047554	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3A	chr3:191046619-191048409	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr3:191046850-191047694	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr3:191046766-191047552	PANC-1	pancreas:	n/a	n/a
35	CTCF	chr3:191046876-191047538	GM12878	blood:	n/a	n/a
36	RCOR1	chr3:191046379-191049021	Hela-S3	cervix:	n/a	n/a
37	CCNT2	chr3:191046374-191047877	K562	blood:	n/a	chr3:191047115-191047124
38	MAX	chr3:191046386-191048027	K562	blood:	n/a	n/a
39	MAX	chr3:191046917-191047663	A549	lung:	n/a	n/a
40	CHD1	chr3:191046720-191049324	GM12878	blood:	n/a	n/a
41	RUNX3	chr3:191046585-191047683	GM12878	blood:	n/a	n/a
42	POLR2A	chr3:191046465-191048917	Hela-S3	cervix:	n/a	n/a
43	HDAC2	chr3:191046898-191047538	HepG2	liver:	n/a	n/a
44	POLR2A	chr3:191046821-191048720	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr3:191046692-191047632	K562	blood:	n/a	n/a
46	E2F6	chr3:191046304-191047634	K562	blood:	n/a	n/a
47	HEY1	chr3:191046688-191047627	HepG2	liver:	n/a	chr3:191047600-191047615
48	ZNF143	chr3:191046728-191047614	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:191046873-191047691	A549	lung:	n/a	n/a
50	E2F1	chr3:191046800-191047707	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:190999845..191001643-chr3:191046703..191048798,2	MCF-7	breast:
2	chr3:191032916..191035495-chr3:191046200..191047748,2	MCF-7	breast:

No data

Variant related genes	Relation type
UTS2B	TF binding region
ENSG00000188958	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10937477	0.95[ASN][1000 genomes]
rs1347400	0.93[ASN][1000 genomes]
rs1465737	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1473866	0.95[ASN][1000 genomes]
rs150506	0.85[ASN][1000 genomes]
rs159488	0.89[ASN][1000 genomes]
rs159489	0.85[ASN][1000 genomes]
rs186066	0.85[ASN][1000 genomes]
rs188384	0.93[ASN][1000 genomes]
rs188385	0.81[ASN][1000 genomes]
rs192671	0.83[ASN][1000 genomes]
rs293797	0.93[ASN][1000 genomes]
rs293798	0.91[ASN][1000 genomes]
rs293800	0.82[ASN][1000 genomes]
rs293802	0.84[ASN][1000 genomes]
rs293804	0.82[ASN][1000 genomes]
rs293806	0.82[ASN][1000 genomes]
rs293808	0.85[ASN][1000 genomes]
rs293815	0.93[ASN][1000 genomes]
rs293844	0.85[ASN][1000 genomes]
rs293846	0.85[ASN][1000 genomes]
rs293851	0.85[ASN][1000 genomes]
rs297396	0.93[ASN][1000 genomes]
rs367747	0.82[ASN][1000 genomes]
rs368665	0.82[ASN][1000 genomes]
rs369174	0.82[ASN][1000 genomes]
rs373035	0.85[ASN][1000 genomes]
rs381090	0.85[ASN][1000 genomes]
rs383075	0.81[ASN][1000 genomes]
rs390744	0.85[ASN][1000 genomes]
rs401465	0.93[ASN][1000 genomes]
rs426466	0.85[ASN][1000 genomes]
rs432085	0.85[ASN][1000 genomes]
rs434556	0.82[ASN][1000 genomes]
rs437244	0.82[ASN][1000 genomes]
rs448133	0.93[ASN][1000 genomes]
rs4677630	0.93[ASN][1000 genomes]
rs4677734	0.93[ASN][1000 genomes]
rs4677735	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523270	0.93[ASN][1000 genomes]
rs525774	0.85[ASN][1000 genomes]
rs526785	0.85[ASN][1000 genomes]
rs529523	0.85[ASN][1000 genomes]
rs566548	0.82[ASN][1000 genomes]
rs6779820	0.98[ASN][1000 genomes]
rs6953	0.85[ASN][1000 genomes]
rs697905	0.82[ASN][1000 genomes]
rs709142	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3325773	chr3:191046083-191048631	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv10370	chr3:191046223-191049560	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191046200-191049200	Active TSS	Brain Angular Gyrus	brain
2	chr3:191046200-191049800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:191046200-191049800	Active TSS	Stomach Smooth Muscle	stomach
4	chr3:191046400-191048200	Active TSS	Rectal Smooth Muscle	rectum
5	chr3:191046400-191048400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:191046400-191048600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:191046400-191048600	Active TSS	Brain Cingulate Gyrus	brain
8	chr3:191046400-191048600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:191046400-191048800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:191046400-191049800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:191046600-191047800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
12	chr3:191046600-191047800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr3:191046600-191047800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:191046600-191047800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:191046600-191048000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:191046600-191048200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr3:191046600-191048200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:191046600-191048200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:191046600-191048800	Active TSS	Fetal Muscle Trunk	muscle
20	chr3:191046600-191049000	Active TSS	Colonic Mucosa	Colon
21	chr3:191046600-191049000	Active TSS	Fetal Intestine Large	intestine
22	chr3:191046600-191049000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr3:191046600-191049000	Active TSS	Left Ventricle	heart
24	chr3:191046600-191049200	Active TSS	HSMM	muscle
25	chr3:191046600-191049600	Active TSS	HSMMtube	muscle
26	chr3:191046600-191049800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:191046600-191049800	Active TSS	Ovary	ovary
28	chr3:191046600-191049800	Active TSS	Right Ventricle	heart
29	chr3:191046600-191050000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:191046600-191050200	Active TSS	Psoas Muscle	Psoas
31	chr3:191046600-191050600	Active TSS	Aorta	Aorta
32	chr3:191046600-191050600	Active TSS	Right Atrium	heart
33	chr3:191046800-191047600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:191046800-191047600	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr3:191046800-191047600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:191046800-191047800	Active TSS	Primary T cells from cord blood	blood
37	chr3:191046800-191048000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:191046800-191048000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:191046800-191048200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:191046800-191048200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:191046800-191048200	Active TSS	Brain Substantia Nigra	brain
42	chr3:191046800-191048400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:191046800-191048400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr3:191046800-191048400	Active TSS	Spleen	Spleen
45	chr3:191046800-191048600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:191046800-191048600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:191046800-191048600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:191046800-191048600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:191046800-191048600	Active TSS	Pancreas	Pancrea
50	chr3:191046800-191048600	Active TSS	Osteobl	bone

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