Variant report

Variant	rs7633752
Chromosome Location	chr3:191000252-191000253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:190999758-191001239	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr3:191000004-191000998	PFSK-1	brain:	n/a	n/a
3	TCF7L2	chr3:191000125-191000987	Hela-S3	cervix:	n/a	chr3:191000512-191000526 chr3:191000515-191000525
4	STAT3	chr3:191000117-191000315	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr3:191000018-191000496	Hela-S3	cervix:	n/a	n/a
6	MAX	chr3:191000209-191000411	Hela-S3	cervix:	n/a	n/a
7	EP300	chr3:191000192-191000493	Hela-S3	cervix:	n/a	n/a
8	RUNX3	chr3:191000251-191000694	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:191000246-191000296	HRPEpiC	eye:	n/a
2	chr3:191000246-191000296	ProgFib	skin:	n/a
3	chr3:191000246-191000296	K562	blood:	n/a
4	chr3:191000246-191000296	HCPEpiC	choroid plexus:	n/a
5	chr3:191000246-191000296	HUVEC	blood vessel:	n/a
6	chr3:191000246-191000296	T-47D	breast:	n/a
7	chr3:191000246-191000296	PANC-1	pancreas:	n/a
8	chr3:191000246-191000296	NHDF-neo	bronchial:	n/a
9	chr3:191000246-191000296	HRE	kidney:	n/a
10	chr3:191000246-191000296	GM12878	blood:	n/a
11	chr3:191000246-191000296	Hela-S3	cervix:	n/a
12	chr3:191000246-191000296	NT2-D1	testis:	n/a
13	chr3:191000246-191000296	Caco-2	colon:	n/a
14	chr3:191000246-191000296	HMEC	breast:	n/a
15	chr3:191000246-191000296	HCM	heart:	n/a
16	chr3:191000246-191000296	PrEC	prostate:	n/a
17	chr3:191000246-191000296	NH-A	brain:	n/a
18	chr3:191000246-191000296	AG09319	gingival:	n/a
19	chr3:191000246-191000296	AG04450	lung:	fetal
20	chr3:191000246-191000296	Jurkat	blood:	n/a
21	chr3:191000246-191000296	AG10803	skin:	n/a
22	chr3:191000246-191000296	BJ	skin:	n/a
23	chr3:191000246-191000296	IMR90	lung:	fetal
24	chr3:191000246-191000296	A549	lung:	n/a
25	chr3:191000246-191000296	NHBE	bronchial:	n/a
26	chr3:191000246-191000296	HCF	heart:	n/a
27	chr3:191000246-191000296	AG09309	skin:	n/a
28	chr3:191000246-191000296	Hepatocyte	liver:	n/a
29	chr3:191000246-191000296	PFSK-1	brain:	n/a
30	chr3:191000246-191000296	HepG2	liver:	n/a
31	chr3:191000246-191000296	NB4	blood:	n/a
32	chr3:191000246-191000296	HNPCEpiC	eye:	n/a
33	chr3:191000246-191000296	AG04449	skin:	fetal
34	chr3:191000246-191000296	SAEC	small airway:	n/a
35	chr3:191000246-191000296	SK-N-MC	brain:	n/a
36	chr3:191000246-191000296	HAEpiC	amniotic membrane:	n/a
37	chr3:191000246-191000296	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:191000246-191000296	BE2_C	brain:	n/a
39	chr3:191000246-191000296	GM19239	blood:	n/a
40	chr3:191000246-191000296	MCF10A-Er-Src	breast:	n/a
41	chr3:191000246-191000296	MCF-7	breast:	n/a
42	chr3:191000246-191000296	HL-60	blood:	n/a
43	chr3:191000246-191000296	HEEpiC	esophagus:	n/a
44	chr3:191000246-191000296	RPTEC	kidney:	n/a
45	chr3:191000246-191000296	AoSMC	blood vessel:	n/a
46	chr3:191000246-191000296	HRCEpiC	kidney:	n/a
47	chr3:191000246-191000296	CMK	blood:	n/a
48	chr3:191000246-191000296	SK-N-SH_RA	brain:	n/a
49	chr3:191000246-191000296	GM12892	blood:	n/a
50	chr3:191000246-191000296	GM06990	blood:	n/a

(count:1 , 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:

No data

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

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10937468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2124078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2124079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2164235	0.92[EUR][1000 genomes]
rs2364375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572057	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603669	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603670	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603671	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603672	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603673	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603677	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603680	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603681	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2603682	0.92[EUR][1000 genomes]
rs2603683	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4388026	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687207	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61193081	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6444532	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6444533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6444534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6444535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv997716	chr3:190943706-191027499	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv10369	chr3:190994774-191011447	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:190998400-191001600	Enhancers	Hela-S3	cervix
2	chr3:190999000-191000800	Weak transcription	Liver	Liver
3	chr3:190999800-191001200	Enhancers	Osteobl	bone
4	chr3:190999800-191001400	Enhancers	NHDF-Ad	bronchial
5	chr3:191000000-191000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:191000000-191001200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:191000000-191001200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:191000000-191001200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:191000000-191001400	Enhancers	Muscle Satellite Cultured Cells	--

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