Variant report

Variant	rs2269970
Chromosome Location	chr7:107002806-107002807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1015410	0.88[CEU][hapmap]
rs1024401	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10249326	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260250	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10264687	0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1034734	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532293	0.82[EUR][1000 genomes]
rs2107762	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2107763	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2158347	0.96[CEU][hapmap];0.91[JPT][hapmap]
rs2189500	0.82[EUR][1000 genomes]
rs2214679	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237667	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2250410	0.82[CEU][hapmap]
rs2395839	0.89[CEU][hapmap]
rs2520279	0.92[CEU][hapmap]
rs257384	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2712192	0.89[CEU][hapmap]
rs2712194	0.89[CEU][hapmap]
rs28718577	0.81[EUR][1000 genomes]
rs4727674	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4727675	0.92[EUR][1000 genomes]
rs4727682	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs4730221	0.92[CEU][hapmap]
rs4730230	0.80[EUR][1000 genomes]
rs4730243	0.81[EUR][1000 genomes]
rs4730244	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs57784799	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57815418	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6466163	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6466164	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466165	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6954422	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs6966616	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs6971864	0.96[CEU][hapmap];0.91[JPT][hapmap]
rs7357192	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787113	0.89[CEU][hapmap]
rs7789927	0.84[EUR][1000 genomes]
rs7791955	0.86[CEU][hapmap]
rs7794142	0.81[EUR][1000 genomes]
rs7794437	0.81[EUR][1000 genomes]
rs7794896	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7802375	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7804398	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
3	chr7:106989200-107018800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:106996400-107003000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:106998200-107003200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:106998400-107004200	Weak transcription	A549	lung
7	chr7:106998600-107003800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:106998800-107003200	Strong transcription	Adipose Nuclei	Adipose
9	chr7:106998800-107003800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr7:106999000-107005000	Weak transcription	HUVEC	blood vessel
11	chr7:106999600-107003200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:106999600-107003800	ZNF genes & repeats	Dnd41	blood
13	chr7:106999600-107005200	Strong transcription	Primary T cells from cord blood	blood
14	chr7:106999600-107007600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:107000000-107003200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:107000000-107004400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:107000200-107003200	Strong transcription	HepG2	liver
18	chr7:107000400-107003600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:107000600-107004200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:107000800-107003400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:107000800-107003400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:107001000-107012200	Weak transcription	NHDF-Ad	bronchial
23	chr7:107001200-107003200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:107001200-107003200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr7:107001200-107003400	Strong transcription	Fetal Lung	lung
26	chr7:107001200-107004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:107001200-107012400	Weak transcription	Fetal Heart	heart
28	chr7:107001200-107013600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:107001400-107003000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:107001400-107003200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:107001400-107003200	Strong transcription	Liver	Liver
32	chr7:107001400-107003200	Strong transcription	Fetal Intestine Large	intestine
33	chr7:107001400-107003400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:107001400-107003600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:107001400-107003600	Strong transcription	Primary B cells from cord blood	blood
36	chr7:107001400-107003600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:107001400-107003600	Strong transcription	K562	blood
38	chr7:107001400-107003800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:107001400-107003800	Weak transcription	Pancreas	Pancrea
40	chr7:107001400-107004000	Weak transcription	Esophagus	oesophagus
41	chr7:107001400-107004000	Weak transcription	Placenta	Placenta
42	chr7:107001400-107004200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:107001400-107004200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:107001400-107004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:107001400-107004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:107001400-107005800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:107001400-107006000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:107001400-107006200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:107001400-107006200	Weak transcription	HMEC	breast
50	chr7:107001400-107006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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