Variant report

Variant	rs73012774
Chromosome Location	chr2:153265529-153265530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:
2	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
3	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
4	chr1:121483040..121485223-chr2:153265205..153267594,2	MCF-7	breast:
5	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:
6	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10931079	0.92[ASN][1000 genomes]
rs11694392	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11696004	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12476186	0.92[ASN][1000 genomes]
rs12693362	0.84[ASN][1000 genomes]
rs13388095	0.84[ASN][1000 genomes]
rs16831021	0.92[ASN][1000 genomes]
rs16831065	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16831082	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831093	0.93[ASN][1000 genomes]
rs16831100	0.93[ASN][1000 genomes]
rs16831118	0.84[ASN][1000 genomes]
rs2345874	0.92[ASN][1000 genomes]
rs34006820	0.84[ASN][1000 genomes]
rs34047327	0.84[EUR][1000 genomes]
rs35662043	0.90[ASN][1000 genomes]
rs3811576	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66663920	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6746538	0.92[ASN][1000 genomes]
rs6757782	0.93[ASN][1000 genomes]
rs6761178	0.92[ASN][1000 genomes]
rs67689907	0.96[ASN][1000 genomes]
rs67761838	0.92[ASN][1000 genomes]
rs73012784	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587450	0.93[ASN][1000 genomes]
rs7601047	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
2	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153257600-153266800	Enhancers	HepG2	liver
6	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
9	chr2:153261800-153266400	Weak transcription	Liver	Liver
10	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:153262400-153266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:153262800-153266400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:153263000-153268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:153263800-153268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:153264000-153268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:153264200-153265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:153264200-153266000	Weak transcription	HMEC	breast
18	chr2:153264200-153266600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:153264200-153266600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:153264200-153266600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:153264200-153268000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:153264200-153268400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:153264200-153268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:153264400-153266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:153264400-153266400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:153264400-153266600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:153264400-153266600	Weak transcription	Osteobl	bone
29	chr2:153264400-153267000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153264400-153267000	Weak transcription	HUVEC	blood vessel
31	chr2:153264400-153268400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:153264400-153269400	Weak transcription	HSMMtube	muscle
33	chr2:153264400-153269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:153264400-153270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:153264400-153271200	Weak transcription	Aorta	Aorta
36	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
37	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
38	chr2:153264600-153265800	Weak transcription	Psoas Muscle	Psoas
39	chr2:153264600-153266000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:153264600-153266000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:153264600-153266000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:153264600-153266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:153264600-153266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:153264600-153266000	Weak transcription	Gastric	stomach
45	chr2:153264600-153266000	Weak transcription	Pancreas	Pancrea
46	chr2:153264600-153266000	Weak transcription	Hela-S3	cervix
47	chr2:153264600-153266000	Weak transcription	NHEK	skin
48	chr2:153264600-153266200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:153264600-153266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:153264600-153266600	Weak transcription	H9 Cell Line	embryonic stem cell

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