Variant report

Variant	rs2160268
Chromosome Location	chr7:12276025-12276026
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10215270	1.00[CEU][hapmap]
rs10251962	1.00[CEU][hapmap]
rs10256397	1.00[CEU][hapmap]
rs10259305	1.00[CEU][hapmap]
rs10268302	1.00[CEU][hapmap]
rs10270435	1.00[CEU][hapmap]
rs10271597	1.00[CEU][hapmap]
rs10273416	1.00[CEU][hapmap]
rs1079506	1.00[CEU][hapmap]
rs11971590	1.00[CEU][hapmap]
rs12699321	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13240394	0.86[ASN][1000 genomes]
rs13244354	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1435530	0.82[ASN][1000 genomes]
rs1548883	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17165694	0.82[ASN][1000 genomes]
rs28459566	0.86[ASN][1000 genomes]
rs28722991	0.81[ASN][1000 genomes]
rs28730406	0.86[ASN][1000 genomes]
rs5011435	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6946459	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6972805	1.00[CEU][hapmap]
rs72582233	0.83[ASN][1000 genomes]
rs72582234	0.83[ASN][1000 genomes]
rs72582242	0.92[ASN][1000 genomes]
rs7802952	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7804053	0.84[ASN][1000 genomes]
rs954660	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv819594	chr7:12275789-12276168	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
4	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
5	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
6	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
9	chr7:12252400-12278600	Weak transcription	NHEK	skin
10	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
11	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
15	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
16	chr7:12255200-12279000	Strong transcription	Liver	Liver
17	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
18	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
20	chr7:12259000-12277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:12259000-12278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:12259200-12277200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:12260400-12279400	Weak transcription	NHDF-Ad	bronchial
25	chr7:12261400-12277800	Weak transcription	Fetal Kidney	kidney
26	chr7:12261600-12278000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:12263200-12279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:12264200-12277800	Weak transcription	NH-A	brain
29	chr7:12264200-12279800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:12264200-12280000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:12264200-12280000	Weak transcription	Ovary	ovary
32	chr7:12264400-12279400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:12264600-12277800	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:12264600-12279600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:12264600-12279600	Weak transcription	Fetal Thymus	thymus
36	chr7:12264600-12279800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:12265600-12277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:12266200-12278000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:12266400-12279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:12266400-12279600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:12266400-12279800	Weak transcription	Small Intestine	intestine
42	chr7:12267000-12279000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:12267600-12276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:12269000-12277000	Weak transcription	Primary T cells from cord blood	blood
45	chr7:12269800-12277000	Weak transcription	Fetal Lung	lung
46	chr7:12270000-12277200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:12270000-12277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:12270000-12277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:12270000-12277800	Weak transcription	Left Ventricle	heart
50	chr7:12270000-12284400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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