Variant report

Variant	rs3807641
Chromosome Location	chr7:21530104-21530105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10233357	0.96[GIH][hapmap]
rs10950852	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10950853	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12672607	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674215	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17144437	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17144460	1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17144465	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs2237301	0.81[AMR][1000 genomes]
rs2282892	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282896	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34538325	0.95[JPT][hapmap];0.93[MEX][hapmap];0.89[ASN][1000 genomes]
rs3823777	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57450186	0.82[AMR][1000 genomes]
rs57470202	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57880370	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57978819	0.92[AMR][1000 genomes]
rs59227605	0.83[AMR][1000 genomes]
rs59245562	0.85[AMR][1000 genomes]
rs59762451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60253697	0.85[AMR][1000 genomes]
rs60430902	0.88[AMR][1000 genomes]
rs6974357	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72494314	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793276	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
3	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
4	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
5	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
6	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
8	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:21504000-21532800	Weak transcription	Lung	lung
14	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:21510200-21530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
17	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:21516400-21530400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:21517400-21532200	Weak transcription	A549	lung
23	chr7:21518000-21532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:21518200-21530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:21518200-21532200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:21518200-21536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:21518200-21536400	Weak transcription	Fetal Kidney	kidney
28	chr7:21518800-21532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:21520800-21532000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:21521000-21532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:21521000-21532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
34	chr7:21522000-21533800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:21522400-21532200	Weak transcription	Adipose Nuclei	Adipose
36	chr7:21522800-21532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:21522800-21533000	Weak transcription	Liver	Liver
38	chr7:21523000-21530400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:21523400-21531000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:21524600-21532000	Weak transcription	Fetal Lung	lung
41	chr7:21526800-21536400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:21527000-21536200	Weak transcription	Psoas Muscle	Psoas
43	chr7:21527600-21530600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:21527800-21530600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr7:21528600-21531400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:21528800-21530600	Strong transcription	Thymus	Thymus
47	chr7:21529400-21531400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:21529600-21530800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr7:21529600-21531200	Strong transcription	Fetal Thymus	thymus
50	chr7:21529800-21530400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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