Variant report

Variant	rs6952344
Chromosome Location	chr7:87535399-87535400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87528984..87530944-chr7:87533782..87536338,2	K562	blood:
2	chr7:87533476..87536222-chr7:87537318..87539544,2	K562	blood:
3	chr7:87534939..87537364-chr7:87538795..87541738,4	K562	blood:
4	chr7:87511736..87514654-chr7:87534264..87536232,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55836201	1.00[AMR][1000 genomes]
rs58230868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60252141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952582	1.00[AMR][1000 genomes]
rs6977504	1.00[AMR][1000 genomes]
rs73706930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782839	1.00[AFR][1000 genomes];1.00[AMR][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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506600-87536800	Weak transcription	Lung	lung
2	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
4	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:87507000-87536400	Weak transcription	Placenta	Placenta
6	chr7:87507200-87537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:87507200-87538400	Weak transcription	Adipose Nuclei	Adipose
8	chr7:87507200-87539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:87507600-87539400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:87508000-87535400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:87508000-87535800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:87508000-87537400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:87508000-87538200	Weak transcription	Thymus	Thymus
14	chr7:87508200-87537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:87508200-87538400	Weak transcription	Fetal Brain Female	brain
16	chr7:87508200-87538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:87508200-87539000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:87508200-87539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:87508200-87539400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:87508200-87539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:87508400-87536000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:87508600-87538600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:87508800-87538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:87510400-87538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:87511800-87537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:87512800-87537400	Strong transcription	Dnd41	blood
27	chr7:87513600-87538000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:87515200-87538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:87515200-87538600	Weak transcription	Fetal Kidney	kidney
30	chr7:87515600-87536800	Weak transcription	Psoas Muscle	Psoas
31	chr7:87516600-87539600	Weak transcription	Spleen	Spleen
32	chr7:87517600-87536000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:87517600-87538600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:87518600-87536400	Weak transcription	Fetal Heart	heart
35	chr7:87519000-87536800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:87521400-87537400	Strong transcription	K562	blood
37	chr7:87522000-87538600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:87522800-87535800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:87522800-87538600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:87523000-87535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:87523200-87536800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:87523400-87538600	Strong transcription	Fetal Thymus	thymus
43	chr7:87524000-87536800	Weak transcription	Aorta	Aorta
44	chr7:87525000-87538400	Weak transcription	NHLF	lung
45	chr7:87525400-87537400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:87526600-87535600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:87526800-87538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:87527600-87538400	Weak transcription	Liver	Liver
49	chr7:87527800-87536200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:87528000-87535800	Strong transcription	Primary monocytes fromperipheralblood	blood

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