Variant report

Variant	rs6948333
Chromosome Location	chr7:128031756-128031757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127996426..127998366-chr7:128029110..128031908,2	MCF-7	breast:
2	chr7:127981942..127985449-chr7:128028066..128032035,3	K562	blood:
3	chr7:127988812..127991042-chr7:128030050..128032695,3	MCF-7	breast:
4	chr7:128031422..128032929-chr7:128049233..128052155,2	MCF-7	breast:
5	chr7:127992082..127994842-chr7:128029852..128032073,3	K562	blood:
6	chr7:127993298..127995820-chr7:128029600..128032073,2	K562	blood:
7	chr7:128030852..128032361-chr7:128115441..128117582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165055	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10229016	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229394	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10230632	0.81[AMR][1000 genomes]
rs10245559	0.81[AMR][1000 genomes]
rs11770116	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11980741	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1560214	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2288548	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288549	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402895	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2562730	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2562732	0.80[AMR][1000 genomes]
rs2562734	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2562737	0.84[AMR][1000 genomes]
rs2732394	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2732397	0.86[AMR][1000 genomes]
rs2732432	0.81[AMR][1000 genomes]
rs3097361	0.84[AMR][1000 genomes]
rs4728108	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4731446	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731448	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731450	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731453	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731454	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731455	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6467178	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6947697	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs930106	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:128024200-128034600	Weak transcription	HMEC	breast
5	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
6	chr7:128027600-128033200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:128027800-128031800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:128027800-128031800	Weak transcription	Ovary	ovary
9	chr7:128027800-128033800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
11	chr7:128028000-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:128028000-128032400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:128028000-128035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
15	chr7:128028200-128031800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:128028200-128032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:128028200-128033000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:128028200-128033200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:128028200-128033200	Weak transcription	Brain Substantia Nigra	brain
20	chr7:128028200-128033400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:128028200-128033400	Weak transcription	Left Ventricle	heart
22	chr7:128028200-128033800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:128028200-128034000	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:128028200-128034200	Weak transcription	HSMMtube	muscle
25	chr7:128028200-128034400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:128028200-128036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:128028200-128036800	Weak transcription	Dnd41	blood
28	chr7:128028200-128037000	Weak transcription	Liver	Liver
29	chr7:128028400-128033200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:128028400-128034400	Weak transcription	K562	blood
31	chr7:128028400-128034600	Weak transcription	Osteobl	bone
32	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
33	chr7:128028800-128031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:128028800-128035600	Weak transcription	NHDF-Ad	bronchial
35	chr7:128028800-128037200	Weak transcription	Primary B cells from cord blood	blood
36	chr7:128029000-128034000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:128029200-128031800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:128029200-128032000	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:128029200-128033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:128029200-128037400	Weak transcription	Fetal Kidney	kidney
41	chr7:128029400-128034000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:128029400-128034200	Weak transcription	Fetal Lung	lung
43	chr7:128029400-128037000	Weak transcription	HSMM	muscle
44	chr7:128029400-128037000	Weak transcription	NH-A	brain
45	chr7:128029600-128034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:128029800-128033000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:128029800-128033200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:128029800-128037200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:128030000-128033000	Weak transcription	Esophagus	oesophagus

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