Variant report

Variant	rs6963428
Chromosome Location	chr7:39703150-39703151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	0.81[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723890	1.00[EUR][1000 genomes]
rs4723896	0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948816	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949371	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689251	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689252	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[EUR][1000 genomes]
rs7789326	0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
2	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:39680800-39704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:39682000-39704000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:39682000-39704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:39686200-39704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:39687400-39715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:39689200-39703800	Weak transcription	Psoas Muscle	Psoas
14	chr7:39690200-39706600	Weak transcription	Fetal Heart	heart
15	chr7:39691800-39707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:39691800-39708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:39692000-39707000	Weak transcription	Stomach Mucosa	stomach
18	chr7:39692000-39707000	Weak transcription	HSMMtube	muscle
19	chr7:39692000-39707200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:39692200-39714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:39697600-39707000	Weak transcription	Adipose Nuclei	Adipose
22	chr7:39697800-39707000	Weak transcription	HSMM	muscle
23	chr7:39698000-39704400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:39698800-39707000	Weak transcription	Left Ventricle	heart
25	chr7:39699200-39705000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:39699400-39705800	Weak transcription	NHDF-Ad	bronchial
27	chr7:39699400-39707000	Weak transcription	Ovary	ovary
28	chr7:39699400-39712000	Weak transcription	Fetal Kidney	kidney
29	chr7:39699600-39706400	Weak transcription	NHLF	lung
30	chr7:39699600-39707000	Weak transcription	Osteobl	bone
31	chr7:39699800-39703200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:39700000-39703400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:39700000-39703400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr7:39700000-39704400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:39700000-39707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:39700000-39728200	Weak transcription	Liver	Liver
37	chr7:39700200-39703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:39700400-39703600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr7:39700400-39704200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr7:39700600-39703200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:39700800-39703800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr7:39701200-39704400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:39701200-39718400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:39701400-39704800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:39701800-39704600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:39701800-39708200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:39701800-39716400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:39701800-39720800	Weak transcription	Lung	lung
49	chr7:39701800-39721200	Weak transcription	Thymus	Thymus
50	chr7:39701800-39722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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