Variant report

Variant	rs7592127
Chromosome Location	chr2:153484396-153484397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153483467..153486291-chr2:153489927..153492505,2	K562	blood:
2	chr2:153046170..153047004-chr2:153483563..153484528,5	MCF-7	breast:
3	chr2:153046132..153047527-chr2:153483800..153484839,4	K562	blood:
4	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
5	chr2:153483467..153486050-chr2:153491005..153492625,2	K562	blood:
6	chr2:153046157..153047020-chr2:153483585..153484533,6	MCF-7	breast:
7	chr2:153477237..153479391-chr2:153483533..153486073,3	K562	blood:
8	chr2:153031670..153034258-chr2:153483006..153485613,2	MCF-7	breast:
9	chr2:153031626..153033929-chr2:153482275..153486045,3	MCF-7	breast:
10	chr2:152893139..152893992-chr2:153483636..153484414,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178618	0.94[ASN][1000 genomes]
rs10185455	0.83[ASN][1000 genomes]
rs11679491	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11883762	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052946	0.90[ASN][1000 genomes]
rs13018870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1561267	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831451	0.90[ASN][1000 genomes]
rs16831529	0.90[ASN][1000 genomes]
rs16831728	0.89[ASN][1000 genomes]
rs16831736	0.85[ASN][1000 genomes]
rs2272535	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293680	0.89[ASN][1000 genomes]
rs3748941	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817620	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3845678	0.96[ASN][1000 genomes]
rs4146903	0.97[ASN][1000 genomes]
rs4664119	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55986999	0.89[ASN][1000 genomes]
rs6710417	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6714218	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858735	0.89[ASN][1000 genomes]
rs72871129	0.87[ASN][1000 genomes]
rs72871192	0.90[ASN][1000 genomes]
rs72872615	0.90[ASN][1000 genomes]
rs746780	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs893328	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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:94 , 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	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:153473800-153496400	Weak transcription	Osteobl	bone
19	chr2:153474400-153486200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:153474800-153484800	Weak transcription	Ovary	ovary
22	chr2:153475800-153493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:153476600-153492800	Weak transcription	Gastric	stomach
24	chr2:153477200-153484800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:153477600-153489800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:153477800-153486200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:153477800-153488000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:153477800-153488200	Weak transcription	Pancreas	Pancrea
29	chr2:153477800-153488400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:153477800-153488400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:153477800-153493800	Weak transcription	HSMMtube	muscle
32	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
34	chr2:153478000-153484600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:153478000-153484600	Weak transcription	HUVEC	blood vessel
36	chr2:153478200-153484600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:153478200-153487000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:153478600-153488600	Weak transcription	Right Ventricle	heart
39	chr2:153478800-153484400	Weak transcription	Lung	lung
40	chr2:153478800-153484600	Weak transcription	Left Ventricle	heart
41	chr2:153478800-153486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:153479200-153484600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:153479400-153496200	Weak transcription	NH-A	brain
44	chr2:153479600-153484400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:153479800-153484400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:153479800-153484800	Weak transcription	Fetal Brain Female	brain
47	chr2:153479800-153488600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:153480000-153484400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:153480000-153484600	Weak transcription	Fetal Intestine Large	intestine
50	chr2:153480200-153484400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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