Variant report

Variant	rs848503
Chromosome Location	chr2:36657664-36657665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36605127..36607933-chr2:36655306..36657795,2	MCF-7	breast:
2	chr2:36653170..36656260-chr2:36656340..36659341,3	K562	blood:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11673762	0.82[CHB][hapmap]
rs11682688	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1477048	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1523788	0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs17018798	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2110928	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2276673	0.89[ASN][1000 genomes]
rs34439217	0.93[ASN][1000 genomes]
rs3770885	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs3770886	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3770903	0.87[ASN][1000 genomes]
rs3770955	0.85[JPT][hapmap]
rs3821157	0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4670555	0.82[ASN][1000 genomes]
rs57393342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729186	0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7571902	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs848498	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848500	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848501	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs848507	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36641200-36659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
4	chr2:36644400-36659600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:36644400-36665600	Weak transcription	Gastric	stomach
6	chr2:36648000-36659600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:36648000-36659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
9	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:36648600-36659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:36650600-36659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
15	chr2:36651400-36658400	Genic enhancers	Osteobl	bone
16	chr2:36651400-36658800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:36651600-36659600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
23	chr2:36652000-36658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:36652200-36658800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
26	chr2:36652400-36658800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:36652400-36660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:36652400-36660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:36654200-36659000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:36654400-36658000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:36654400-36658200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:36654400-36659000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:36654400-36659000	Genic enhancers	HUVEC	blood vessel
36	chr2:36654600-36658400	Genic enhancers	NHDF-Ad	bronchial
37	chr2:36654600-36660200	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr2:36654800-36660800	Enhancers	Ovary	ovary
39	chr2:36655000-36658800	Weak transcription	Small Intestine	intestine
40	chr2:36655200-36660400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:36655400-36657800	Weak transcription	Right Ventricle	heart
42	chr2:36655400-36659600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:36655400-36659800	Weak transcription	NH-A	brain
44	chr2:36655400-36662600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:36655800-36659400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:36656000-36658000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:36656000-36658000	Enhancers	Esophagus	oesophagus
48	chr2:36656000-36658000	Enhancers	Left Ventricle	heart
49	chr2:36656000-36658400	Enhancers	Aorta	Aorta
50	chr2:36656000-36659000	Enhancers	Psoas Muscle	Psoas

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