Variant report

Variant	rs7592968
Chromosome Location	chr2:149272576-149272577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12615627	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12622366	0.87[CEU][hapmap]
rs12691802	0.85[CEU][hapmap]
rs13014625	0.87[CEU][hapmap]
rs13014829	0.87[CEU][hapmap]
rs1550858	0.80[EUR][1000 genomes]
rs16828718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16828726	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4609986	0.80[EUR][1000 genomes]
rs4972382	0.87[CEU][hapmap]
rs4972385	0.87[CEU][hapmap]
rs55933306	0.89[EUR][1000 genomes]
rs6708007	0.87[CEU][hapmap]
rs73965448	1.00[ASN][1000 genomes]
rs7601936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287418	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149248800-149276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:149248800-149284600	Weak transcription	Lung	lung
4	chr2:149261600-149279200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:149267000-149286200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:149267200-149273600	Weak transcription	Fetal Lung	lung
7	chr2:149267200-149273600	Weak transcription	NH-A	brain
8	chr2:149267200-149275800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:149267200-149277200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:149267200-149278200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:149267200-149280200	Weak transcription	Thymus	Thymus
12	chr2:149267200-149280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:149267200-149281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:149267200-149282600	Weak transcription	Fetal Kidney	kidney
15	chr2:149267200-149282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:149267200-149285400	Weak transcription	GM12878-XiMat	blood
17	chr2:149267200-149285600	Weak transcription	HSMMtube	muscle
18	chr2:149267400-149272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:149267400-149273800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:149267400-149275000	Weak transcription	Gastric	stomach
21	chr2:149267400-149276600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:149267400-149277200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:149267400-149278600	Weak transcription	Ovary	ovary
24	chr2:149267400-149278800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:149267400-149278800	Weak transcription	HSMM	muscle
26	chr2:149267400-149279000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:149267400-149279400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:149267400-149281200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:149267400-149281400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:149267400-149281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:149267400-149282000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:149267400-149282200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:149267400-149285200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
35	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
36	chr2:149267600-149275000	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:149267600-149276000	Weak transcription	Fetal Intestine Small	intestine
38	chr2:149267600-149278000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:149267600-149278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:149267600-149278400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:149267600-149279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:149267600-149280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:149267600-149283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:149267600-149284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:149267600-149284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:149267600-149285200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:149267800-149278200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:149269800-149273000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:149269800-149278800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:149270200-149274800	Weak transcription	Aorta	Aorta

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