Variant report

Variant	rs9834749
Chromosome Location	chr3:191048364-191048365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:191048225-191048548	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:191046161-191048563	GM19193	blood:	n/a	n/a
3	TAF1	chr3:191047746-191048567	Hela-S3	cervix:	n/a	n/a
4	FOS	chr3:191048183-191048586	Hela-S3	cervix:	n/a	n/a
5	MAX	chr3:191046768-191048822	Hela-S3	cervix:	n/a	n/a
6	ELK1	chr3:191048175-191048673	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:191046549-191048828	HUVEC	blood vessel:	n/a	n/a
8	RELA	chr3:191046517-191048835	GM18951	blood:	n/a	n/a
9	HA-E2F1	chr3:191046077-191048374	MCF-7	breast:	n/a	chr3:191048046-191048058
10	MXI1	chr3:191047769-191049062	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr3:191048166-191048542	K562	blood:	n/a	chr3:191048280-191048291 chr3:191048366-191048382
12	RFX5	chr3:191046576-191049678	Hela-S3	cervix:	n/a	n/a
13	ELK4	chr3:191047896-191048798	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr3:191048251-191048546	HepG2	liver:	n/a	chr3:191048280-191048291 chr3:191048366-191048382
15	CUX1	chr3:191047969-191048970	K562	blood:	n/a	n/a
16	GTF2F1	chr3:191047516-191048903	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr3:191047937-191050305	PFSK-1	brain:	n/a	n/a
18	SIN3A	chr3:191046619-191048409	H1-hESC	embryonic stem cell:	n/a	n/a
19	RCOR1	chr3:191046379-191049021	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr3:191046720-191049324	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:191046465-191048917	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr3:191047778-191049011	Hela-S3	cervix:	n/a	n/a
23	TBP	chr3:191047805-191049575	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr3:191046821-191048720	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr3:191047749-191048599	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr3:191048225-191048818	MCF10A-Er-Src	breast:	n/a	n/a
27	CCNT2	chr3:191048215-191048802	K562	blood:	n/a	n/a
28	POLR2A	chr3:191046459-191049825	IMR90	lung:	n/a	n/a
29	POLR2A	chr3:191046407-191048524	GM18951	blood:	n/a	n/a
30	MAFK	chr3:191047806-191048757	Hela-S3	cervix:	n/a	chr3:191048280-191048291 chr3:191048366-191048382
31	EP300	chr3:191048166-191048781	Hela-S3	cervix:	n/a	n/a
32	FOS	chr3:191048295-191048519	MCF10A-Er-Src	breast:	n/a	n/a
33	PRDM1	chr3:191047882-191048628	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:191046781-191048552	K562	blood:	n/a	n/a
35	SMARCC1	chr3:191046178-191049116	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr3:191047888-191049561	Hela-S3	cervix:	n/a	chr3:191048415-191048422
37	USF2	chr3:191048204-191048643	Hela-S3	cervix:	n/a	n/a
38	FOXA2	chr3:191048086-191048464	A549	lung:	n/a	n/a
39	KAP1	chr3:191047864-191048501	U2OS	brain:	n/a	n/a
40	ZKSCAN1	chr3:191046644-191048698	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:191046715-191049414	MCF10A-Er-Src	breast:	n/a	n/a
42	CHD2	chr3:191046509-191048808	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr3:191046706-191048729	Hela-S3	cervix:	n/a	n/a
44	TCF7L2	chr3:191047699-191048925	Hela-S3	cervix:	n/a	chr3:191048762-191048778
45	UBTF	chr3:191046251-191048708	K562	blood:	n/a	n/a
46	EP300	chr3:191048186-191048368	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:191046553-191048734	Hela-S3	cervix:	n/a	n/a
48	SMARCB1	chr3:191046819-191048549	Hela-S3	cervix:	n/a	n/a
49	TBP	chr3:191046329-191048388	K562	blood:	n/a	n/a
50	POLR2A	chr3:191046524-191048991	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:191048361-191048411	HEEpiC	esophagus:	n/a
2	chr3:191048361-191048411	GM12878	blood:	n/a
3	chr3:191048361-191048411	K562	blood:	n/a
4	chr3:191048361-191048411	U87	brain:	n/a
5	chr3:191048361-191048411	HMEC	breast:	n/a
6	chr3:191048361-191048411	T-47D	breast:	n/a
7	chr3:191048361-191048411	ProgFib	skin:	n/a
8	chr3:191048361-191048411	HUVEC	blood vessel:	n/a
9	chr3:191048361-191048411	NH-A	brain:	n/a
10	chr3:191048361-191048411	HCF	heart:	n/a
11	chr3:191048361-191048411	NB4	blood:	n/a
12	chr3:191048361-191048411	HNPCEpiC	eye:	n/a
13	chr3:191048361-191048411	HCPEpiC	choroid plexus:	n/a
14	chr3:191048361-191048411	SK-N-MC	brain:	n/a
15	chr3:191048361-191048411	IMR90	lung:	fetal
16	chr3:191048361-191048411	SK-N-SH	brain:	n/a
17	chr3:191048361-191048411	A549	lung:	n/a
18	chr3:191048361-191048411	HRCEpiC	kidney:	n/a
19	chr3:191048361-191048411	MCF10A-Er-Src	breast:	n/a
20	chr3:191048361-191048411	GM06990	blood:	n/a
21	chr3:191048361-191048411	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:191048361-191048411	CMK	blood:	n/a
23	chr3:191048361-191048411	Jurkat	blood:	n/a
24	chr3:191048361-191048411	LNCaP	prostate:	n/a
25	chr3:191048361-191048411	Caco-2	colon:	n/a
26	chr3:191048361-191048411	SK-N-SH_RA	brain:	n/a
27	chr3:191048361-191048411	MCF-7	breast:	n/a
28	chr3:191048361-191048411	HRPEpiC	eye:	n/a
29	chr3:191048361-191048411	GM12892	blood:	n/a
30	chr3:191048361-191048411	RPTEC	kidney:	n/a
31	chr3:191048361-191048411	HCT-116	colon:	n/a
32	chr3:191048361-191048411	Hepatocyte	liver:	n/a
33	chr3:191048361-191048411	BJ	skin:	n/a
34	chr3:191048361-191048411	GM19239	blood:	n/a
35	chr3:191048361-191048411	H1-hESC	embryonic stem cell:	embryo
36	chr3:191048361-191048411	HAEpiC	amniotic membrane:	n/a
37	chr3:191048361-191048411	GM12891	blood:	n/a
38	chr3:191048361-191048411	BE2_C	brain:	n/a
39	chr3:191048361-191048411	PrEC	prostate:	n/a
40	chr3:191048361-191048411	SKMC	muscle:	n/a
41	chr3:191048361-191048411	HRE	kidney:	n/a
42	chr3:191048361-191048411	HepG2	liver:	n/a
43	chr3:191048361-191048411	HEK293	kidney:	embryo
44	chr3:191048361-191048411	AG04449	skin:	fetal
45	chr3:191048361-191048411	ECC-1	luminal epithelium:	n/a
46	chr3:191048361-191048411	NHDF-neo	bronchial:	n/a
47	chr3:191048361-191048411	PANC-1	pancreas:	n/a
48	chr3:191048361-191048411	Hela-S3	cervix:	n/a
49	chr3:191048361-191048411	AoSMC	blood vessel:	n/a
50	chr3:191048361-191048411	ovcar-3	ovarian:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:190999845..191001643-chr3:191046703..191048798,2	MCF-7	breast:
2	chr12:52463379..52464275-chr3:191047727..191048635,2	Hela-S3	cervix:
3	chr3:191044441..191046950-chr3:191048340..191050123,2	K562	blood:

No data

Variant related genes	Relation type
UTS2B	TF binding region
UTS2B	CpG island
ENSG00000188958	Chromatin interaction
ENSG00000123395	Chromatin interaction
ENSG00000152492	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12633312	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12635242	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028573	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28396104	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627146	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60167114	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6444540	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6444542	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66809497	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67382556	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6774730	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797930	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185212	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7636627	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7636707	0.89[ASN][1000 genomes]
rs7640087	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648303	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs920032	0.89[EUR][1000 genomes]
rs9821594	0.96[ASN][1000 genomes]
rs9838011	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838014	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9841435	0.90[ASN][1000 genomes]
rs9860740	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9985271	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv980108	chr3:191047936-191051389	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr3:191046200-191049200	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	chr3:191046400-191048400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:191046400-191048600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:191046400-191048600	Active TSS	Brain Cingulate Gyrus	brain
7	chr3:191046400-191048600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr3:191046400-191048800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:191046400-191049800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:191046600-191048800	Active TSS	Fetal Muscle Trunk	muscle
11	chr3:191046600-191049000	Active TSS	Colonic Mucosa	Colon
12	chr3:191046600-191049000	Active TSS	Fetal Intestine Large	intestine
13	chr3:191046600-191049000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:191046600-191049000	Active TSS	Left Ventricle	heart
15	chr3:191046600-191049200	Active TSS	HSMM	muscle
16	chr3:191046600-191049600	Active TSS	HSMMtube	muscle
17	chr3:191046600-191049800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:191046600-191049800	Active TSS	Ovary	ovary
19	chr3:191046600-191049800	Active TSS	Right Ventricle	heart
20	chr3:191046600-191050000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:191046600-191050200	Active TSS	Psoas Muscle	Psoas
22	chr3:191046600-191050600	Active TSS	Aorta	Aorta
23	chr3:191046600-191050600	Active TSS	Right Atrium	heart
24	chr3:191046800-191048400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:191046800-191048400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr3:191046800-191048400	Active TSS	Spleen	Spleen
27	chr3:191046800-191048600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:191046800-191048600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:191046800-191048600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:191046800-191048600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:191046800-191048600	Active TSS	Pancreas	Pancrea
32	chr3:191046800-191048600	Active TSS	Osteobl	bone
33	chr3:191046800-191048800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr3:191046800-191048800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:191046800-191048800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:191046800-191048800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:191046800-191048800	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr3:191046800-191048800	Active TSS	Colon Smooth Muscle	Colon
39	chr3:191046800-191048800	Active TSS	Esophagus	oesophagus
40	chr3:191046800-191048800	Active TSS	Fetal Kidney	kidney
41	chr3:191046800-191048800	Active TSS	Gastric	stomach
42	chr3:191046800-191048800	Active TSS	Small Intestine	intestine
43	chr3:191046800-191048800	Active TSS	NHDF-Ad	bronchial
44	chr3:191046800-191049000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:191046800-191049000	Active TSS	Lung	lung
46	chr3:191046800-191049000	Active TSS	A549	lung
47	chr3:191046800-191049000	Bivalent/Poised TSS	HepG2	liver
48	chr3:191046800-191049400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:191046800-191049400	Active TSS	Fetal Brain Female	brain
50	chr3:191046800-191049600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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