Variant report

Variant	rs6973987
Chromosome Location	chr7:21501358-21501359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10239423	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10276352	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1978154	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2158416	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282889	0.88[ASN][1000 genomes]
rs2282894	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282895	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2390534	0.89[ASN][1000 genomes]
rs4722033	0.82[EUR][1000 genomes]
rs56099083	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs886498	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 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	chr7:21470400-21516600	Weak transcription	Liver	Liver
2	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
3	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
4	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
6	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
8	chr7:21491400-21503000	Weak transcription	Gastric	stomach
9	chr7:21491800-21502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
11	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
12	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:21494000-21501600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:21494000-21504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:21494400-21505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:21494400-21517400	Weak transcription	Fetal Kidney	kidney
17	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:21495600-21501400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:21495800-21516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:21496000-21502800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:21496000-21516600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:21496000-21519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:21496200-21505400	Weak transcription	Ovary	ovary
24	chr7:21496200-21517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:21496600-21501400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:21496600-21503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:21496600-21517600	Weak transcription	Dnd41	blood
28	chr7:21496600-21521600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:21496800-21517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:21497200-21516200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:21497600-21520800	Weak transcription	HUVEC	blood vessel
32	chr7:21497800-21502800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:21498000-21518800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:21498200-21503800	Weak transcription	Lung	lung
35	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:21498400-21501400	Strong transcription	Thymus	Thymus
37	chr7:21498600-21502000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
39	chr7:21498800-21511800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:21498800-21517200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:21499200-21502000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr7:21499200-21507200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:21499600-21516600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:21499800-21501600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:21500000-21502400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:21500000-21502600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:21500000-21503000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:21500000-21505200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:21500000-21512600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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