Variant report

Variant	rs6964645
Chromosome Location	chr7:5766495-5766496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11971922	0.83[AFR][1000 genomes]
rs11980556	0.90[AFR][1000 genomes]
rs6948331	0.90[AFR][1000 genomes]
rs6965723	0.85[AFR][1000 genomes]
rs6968987	0.83[AFR][1000 genomes]
rs6973104	0.90[AFR][1000 genomes]
rs6974774	0.83[AFR][1000 genomes]
rs6976510	0.97[AFR][1000 genomes]
rs7783367	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
15	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
17	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
18	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
20	nsv970440	chr7:5762947-5773677	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5737600-5774200	Strong transcription	Dnd41	blood
3	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
4	chr7:5744200-5766600	Weak transcription	Stomach Mucosa	stomach
5	chr7:5744200-5769400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:5744600-5769400	Strong transcription	Primary T cells from cord blood	blood
7	chr7:5744600-5769600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:5744800-5769200	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:5744800-5769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:5745000-5769200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:5745000-5769800	Strong transcription	Liver	Liver
12	chr7:5746000-5769600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr7:5746000-5770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:5747400-5769200	Strong transcription	Fetal Stomach	stomach
16	chr7:5747400-5769400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:5747400-5769600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:5747600-5769600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:5748200-5769600	Strong transcription	A549	lung
20	chr7:5749200-5769800	Strong transcription	Adipose Nuclei	Adipose
21	chr7:5749800-5769200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:5754000-5769200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:5755000-5767800	Weak transcription	Colonic Mucosa	Colon
25	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:5757000-5769400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:5757000-5769800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:5758400-5768400	Strong transcription	Left Ventricle	heart
29	chr7:5758400-5769200	Strong transcription	Thymus	Thymus
30	chr7:5758400-5770200	Strong transcription	Fetal Thymus	thymus
31	chr7:5758600-5769000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:5758800-5767200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:5758800-5769000	Strong transcription	Brain Angular Gyrus	brain
34	chr7:5758800-5769200	Strong transcription	Osteobl	bone
35	chr7:5758800-5769600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:5758800-5769600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:5758800-5769800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:5758800-5769800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:5758800-5770000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:5758800-5770200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:5758800-5770800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:5758800-5770800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:5758800-5771000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:5759000-5769000	Strong transcription	Fetal Brain Female	brain
45	chr7:5759000-5769600	Strong transcription	NH-A	brain
46	chr7:5759000-5770200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:5759200-5770000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:5759400-5769400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:5759600-5769200	Strong transcription	Brain Hippocampus Middle	brain
50	chr7:5760000-5768800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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