Variant report

Variant	rs940295
Chromosome Location	chr2:36686423-36686424
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36582359..36584332-chr2:36684564..36688180,3	MCF-7	breast:
2	chr2:36685298..36687775-chr2:36688130..36689743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28622501	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770858	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3770865	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3770866	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770873	0.84[ASN][1000 genomes]
rs4670560	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs6720730	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs756203	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848534	0.90[CEU][hapmap]
rs848544	0.86[CEU][hapmap]
rs848549	0.82[CEU][hapmap]
rs848558	0.86[CEU][hapmap]
rs861051	0.85[CEU][hapmap]
rs940294	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[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:104 , 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	chr2:36660800-36695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:36666400-36686800	Weak transcription	Gastric	stomach
4	chr2:36668800-36690200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:36669200-36688200	Weak transcription	Thymus	Thymus
6	chr2:36669400-36688000	Weak transcription	Fetal Thymus	thymus
7	chr2:36670000-36688200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:36672800-36688000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:36673600-36688000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:36675400-36688000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:36678000-36688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:36678400-36688000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:36679000-36687600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:36679200-36688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:36679800-36687200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:36679800-36704000	Weak transcription	Fetal Brain Female	brain
17	chr2:36680400-36695600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:36681000-36686600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:36682400-36687000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:36682400-36688800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:36682600-36686800	Enhancers	Fetal Kidney	kidney
22	chr2:36682600-36687800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:36683000-36687600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:36683400-36688200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:36683400-36691400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:36683800-36686800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:36683800-36686800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:36683800-36686800	Weak transcription	Esophagus	oesophagus
29	chr2:36683800-36687800	Weak transcription	Liver	Liver
30	chr2:36683800-36688000	Genic enhancers	HUVEC	blood vessel
31	chr2:36683800-36690800	Genic enhancers	Osteobl	bone
32	chr2:36683800-36704000	Weak transcription	Pancreas	Pancrea
33	chr2:36684000-36686800	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:36684000-36687400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:36684000-36688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:36684000-36695800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:36684200-36686800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:36684200-36686800	Genic enhancers	A549	lung
39	chr2:36684200-36687800	Weak transcription	Brain Angular Gyrus	brain
40	chr2:36684200-36687800	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:36684200-36688000	Weak transcription	Psoas Muscle	Psoas
42	chr2:36684200-36688400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:36684200-36695800	Weak transcription	Brain Substantia Nigra	brain
44	chr2:36684400-36686800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:36684400-36691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:36684600-36687600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:36684600-36688000	Genic enhancers	NHLF	lung
48	chr2:36684800-36686600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr2:36684800-36686600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:36684800-36686600	Weak transcription	Fetal Lung	lung

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