Variant report

Variant	rs7604573
Chromosome Location	chr2:153483257-153483258
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	chr2:153031670..153034258-chr2:153483006..153485613,2	MCF-7	breast:
2	chr2:153031626..153033929-chr2:153482275..153486045,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10178618	0.85[CHD][hapmap]
rs10185455	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.92[ASN][1000 genomes]
rs11883762	0.85[CHD][hapmap]
rs1561267	0.85[CHD][hapmap]
rs16831451	0.80[CHD][hapmap];0.81[ASN][1000 genomes]
rs16831529	0.85[CHD][hapmap]
rs16831728	0.85[CHD][hapmap]
rs1962313	0.82[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap]
rs1965785	0.86[ASN][1000 genomes]
rs3748938	0.87[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs3811570	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3817620	0.85[CHD][hapmap]
rs3845678	0.84[ASN][1000 genomes]
rs4146903	0.85[CHD][hapmap]
rs6434129	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
7	chr2:153468800-153492000	Weak transcription	Liver	Liver
8	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
9	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
10	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
11	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
12	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
14	chr2:153469600-153496800	Weak transcription	HSMM	muscle
15	chr2:153470400-153483600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:153470600-153483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:153473800-153496400	Weak transcription	Osteobl	bone
21	chr2:153474400-153486200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:153474800-153484800	Weak transcription	Ovary	ovary
24	chr2:153475800-153493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:153476600-153492800	Weak transcription	Gastric	stomach
26	chr2:153477000-153484200	Weak transcription	Hela-S3	cervix
27	chr2:153477200-153484800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:153477600-153489800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:153477800-153486200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:153477800-153488000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:153477800-153488200	Weak transcription	Pancreas	Pancrea
32	chr2:153477800-153488400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:153477800-153488400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:153477800-153493800	Weak transcription	HSMMtube	muscle
35	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
37	chr2:153478000-153484600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:153478000-153484600	Weak transcription	HUVEC	blood vessel
39	chr2:153478200-153484600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:153478200-153487000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:153478600-153483400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:153478600-153488600	Weak transcription	Right Ventricle	heart
43	chr2:153478800-153484400	Weak transcription	Lung	lung
44	chr2:153478800-153484600	Weak transcription	Left Ventricle	heart
45	chr2:153478800-153486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:153479000-153484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:153479200-153484600	Weak transcription	Adipose Nuclei	Adipose
48	chr2:153479400-153496200	Weak transcription	NH-A	brain
49	chr2:153479600-153484400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:153479800-153484400	Weak transcription	Fetal Muscle Trunk	muscle

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