Variant report

Variant	rs848511
Chromosome Location	chr2:36681984-36681985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36677912..36680893-chr2:36680931..36685254,3	MCF-7	breast:
2	chr2:36681095..36682595-chr5:173191631..173193199,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1179502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17018736	1.00[CHB][hapmap]
rs17018822	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17038831	0.82[CHB][hapmap]
rs17038833	0.82[CHB][hapmap]
rs2030644	1.00[CHB][hapmap]
rs2689711	0.84[CEU][hapmap]
rs3755212	1.00[CHB][hapmap]
rs3755217	1.00[CHB][hapmap]
rs3770877	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs3770894	0.85[CHB][hapmap]
rs3770913	0.84[CHB][hapmap]
rs3770916	0.82[CHB][hapmap]
rs3770924	0.82[CHB][hapmap]
rs4141687	0.85[CHB][hapmap]
rs711254	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711255	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs848508	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs848512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs848513	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs848514	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs860232	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
2	chr2:36660600-36682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36660600-36683000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:36660800-36695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:36661600-36683000	Genic enhancers	HUVEC	blood vessel
6	chr2:36666400-36686800	Weak transcription	Gastric	stomach
7	chr2:36666600-36683400	Genic enhancers	NHLF	lung
8	chr2:36668800-36690200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:36669200-36688200	Weak transcription	Thymus	Thymus
10	chr2:36669400-36688000	Weak transcription	Fetal Thymus	thymus
11	chr2:36669600-36683800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:36670000-36682200	Genic enhancers	NHDF-Ad	bronchial
13	chr2:36670000-36688200	Weak transcription	Primary T cells from cord blood	blood
14	chr2:36670400-36682600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:36670400-36683000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:36670800-36682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:36670800-36682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:36671200-36682600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:36672400-36683600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:36672800-36682600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:36672800-36683400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:36672800-36688000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:36673600-36688000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:36674000-36682000	Weak transcription	Liver	Liver
25	chr2:36674000-36682600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:36674000-36682600	Weak transcription	Fetal Kidney	kidney
27	chr2:36675400-36683400	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr2:36675400-36688000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:36676000-36683000	Genic enhancers	HSMM	muscle
30	chr2:36676200-36682600	Genic enhancers	HepG2	liver
31	chr2:36676600-36682200	Weak transcription	Spleen	Spleen
32	chr2:36676600-36682600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:36676600-36683000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:36676600-36683000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:36676600-36683400	Enhancers	Adipose Nuclei	Adipose
36	chr2:36676600-36685200	Enhancers	Fetal Heart	heart
37	chr2:36676800-36682600	Weak transcription	Pancreas	Pancrea
38	chr2:36676800-36683000	Weak transcription	Esophagus	oesophagus
39	chr2:36677400-36682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:36677600-36682600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:36677600-36684800	Genic enhancers	HSMMtube	muscle
42	chr2:36677800-36683400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:36678000-36682800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:36678000-36688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:36678200-36682200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:36678400-36682600	Genic enhancers	NH-A	brain
47	chr2:36678400-36688000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:36678600-36683000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:36678800-36685600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:36679000-36682200	Weak transcription	Right Atrium	heart

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