Variant report

Variant	rs6763313
Chromosome Location	chr3:28392598-28392599
allele	C/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	POLR2A	chr3:28388560-28395839	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:28387839-28396035	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:28360111..28361698-chr3:28390791..28393091,2	K562	blood:
2	chr3:28390959..28393888-chr3:28439197..28440878,2	K562	blood:
3	chr3:28391232..28393248-chr3:28418194..28419782,2	K562	blood:
4	chr3:23957644..23960053-chr3:28390990..28393934,2	K562	blood:
5	chr3:28388985..28391534-chr3:28392522..28395411,2	MCF-7	breast:

Variant related genes	Relation type
AZI2	TF binding region
ENSG00000163512	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000206559	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13065010	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13069839	0.89[ASN][1000 genomes]
rs13070434	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13081520	0.80[ASN][1000 genomes]
rs13085075	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13095675	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13101128	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1585211	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1606393	0.82[EUR][1000 genomes]
rs17357206	0.80[ASN][1000 genomes]
rs17695884	0.82[ASN][1000 genomes]
rs17696025	0.80[ASN][1000 genomes]
rs1870259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975828	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975829	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2018136	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2168799	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34311197	0.80[ASN][1000 genomes]
rs34796684	0.82[ASN][1000 genomes]
rs35702956	0.82[ASN][1000 genomes]
rs36105900	0.82[ASN][1000 genomes]
rs3762797	0.80[ASN][1000 genomes]
rs4327342	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680750	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680909	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4680910	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680913	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62251131	0.82[ASN][1000 genomes]
rs62251134	0.82[ASN][1000 genomes]
rs62251138	0.80[ASN][1000 genomes]
rs66733194	0.80[ASN][1000 genomes]
rs6762636	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6771057	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6788754	0.83[EUR][1000 genomes]
rs6803692	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7639750	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641491	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7649498	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650742	0.84[EUR][1000 genomes]
rs7651883	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9843464	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2500136	chr3:28391396-28393792	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2010454	chr3:28391892-28393499	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3461675	chr3:28391934-28393405	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3461670	chr3:28391947-28393385	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3461671	chr3:28391981-28393401	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3461672	chr3:28392005-28393355	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv9779	chr3:28392059-28393315	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3461673	chr3:28392071-28393320	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3461676	chr3:28392085-28393318	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28391000-28394400	Weak transcription	Spleen	Spleen
2	chr3:28391200-28393600	Weak transcription	Gastric	stomach
3	chr3:28391200-28395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:28391400-28392800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:28391400-28393200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:28391400-28393200	Weak transcription	Fetal Kidney	kidney
7	chr3:28391400-28393200	Weak transcription	Ovary	ovary
8	chr3:28391400-28393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:28391400-28393600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:28391400-28393600	Weak transcription	Aorta	Aorta
11	chr3:28391400-28393600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:28391400-28393600	Weak transcription	Pancreas	Pancrea
13	chr3:28391400-28393600	Weak transcription	HSMM	muscle
14	chr3:28391400-28394000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:28391400-28394200	Weak transcription	Left Ventricle	heart
16	chr3:28391400-28394400	Weak transcription	Placenta	Placenta
17	chr3:28391400-28394400	Weak transcription	Fetal Stomach	stomach
18	chr3:28391400-28395200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:28391400-28395200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:28391400-28396000	Weak transcription	Colonic Mucosa	Colon
21	chr3:28391600-28392600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:28391600-28392600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:28391600-28392600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:28391600-28392800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:28391600-28392800	Weak transcription	Fetal Lung	lung
26	chr3:28391600-28392800	Weak transcription	Psoas Muscle	Psoas
27	chr3:28391600-28393200	Weak transcription	Primary B cells from cord blood	blood
28	chr3:28391600-28393400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:28391600-28394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:28391600-28395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:28391600-28395400	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:28391600-28397800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:28391600-28398600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:28391800-28393000	Enhancers	Dnd41	blood
35	chr3:28391800-28393200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:28391800-28393400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:28391800-28394200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:28391800-28395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:28391800-28395200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:28391800-28395200	Weak transcription	Osteobl	bone
41	chr3:28391800-28395400	Weak transcription	Brain Angular Gyrus	brain
42	chr3:28391800-28395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:28391800-28397000	Weak transcription	HSMMtube	muscle
44	chr3:28392000-28393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:28392000-28393200	Weak transcription	Liver	Liver
46	chr3:28392000-28393400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:28392000-28393600	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:28392000-28393600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:28392000-28394200	Weak transcription	NHLF	lung
50	chr3:28392000-28395000	Weak transcription	NHDF-Ad	bronchial

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