Variant report

Variant	rs952764
Chromosome Location	chr2:58109544-58109545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58108798..58111320-chr2:58112288..58115523,3	K562	blood:
2	chr2:58107882..58110920-chr2:58111613..58114646,4	MCF-7	breast:
3	chr2:58109065..58111032-chr2:58113088..58114709,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12470851	0.82[YRI][hapmap]
rs17049114	0.83[ASN][1000 genomes]
rs17049132	0.87[ASN][1000 genomes]
rs17049312	0.83[YRI][hapmap]
rs17049316	0.85[YRI][hapmap]
rs60589532	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6709452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72804571	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808454	0.84[EUR][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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58106000-58109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:58106000-58113000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:58106000-58113400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:58106000-58113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:58106000-58113400	Weak transcription	Pancreas	Pancrea
6	chr2:58106400-58113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:58106800-58110000	Weak transcription	Fetal Brain Male	brain
8	chr2:58107000-58109600	Enhancers	Adipose Nuclei	Adipose
9	chr2:58108000-58110600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:58108000-58110600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:58108000-58110600	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:58108200-58109600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:58108200-58109600	Enhancers	Brain Anterior Caudate	brain
14	chr2:58108200-58109600	Enhancers	Brain Substantia Nigra	brain
15	chr2:58108200-58110000	Enhancers	HSMM	muscle
16	chr2:58108600-58109800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:58108600-58109800	Enhancers	NHDF-Ad	bronchial
18	chr2:58108600-58110400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:58108600-58111600	Weak transcription	Fetal Brain Female	brain
20	chr2:58108800-58109600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:58108800-58109800	Enhancers	HepG2	liver
22	chr2:58108800-58110200	Enhancers	HMEC	breast
23	chr2:58108800-58110400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:58108800-58110400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:58109000-58109600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:58109000-58109600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:58109000-58109800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:58109000-58109800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:58109000-58109800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:58109000-58109800	Weak transcription	NHLF	lung
31	chr2:58109000-58110200	Flanking Active TSS	Hela-S3	cervix
32	chr2:58109000-58110400	Enhancers	HSMMtube	muscle
33	chr2:58109200-58110000	Enhancers	Colon Smooth Muscle	Colon
34	chr2:58109200-58110400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:58109200-58110600	Active TSS	A549	lung
36	chr2:58109400-58109600	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:58109400-58110400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:58109400-58110400	Flanking Active TSS	Osteobl	bone
39	chr2:58109400-58110600	Active TSS	Brain Cingulate Gyrus	brain
40	chr2:58109400-58110600	Active TSS	Brain Hippocampus Middle	brain
41	chr2:58109400-58110600	Active TSS	Brain Inferior Temporal Lobe	brain

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