Variant report

Variant	rs7595822
Chromosome Location	chr2:153381503-153381504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153365869..153368986-chr2:153378102..153382040,3	MCF-7	breast:
2	chr2:153376259..153378137-chr2:153378821..153381513,2	K562	blood:
3	chr2:153377446..153381563-chr2:153382108..153385052,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10180234	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10207275	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1545134	0.87[ASN][1000 genomes]
rs16831261	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831265	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2346181	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2459776	0.86[ASN][1000 genomes]
rs2577176	0.88[ASN][1000 genomes]
rs2577180	0.96[ASN][1000 genomes]
rs2577181	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2678303	0.87[ASN][1000 genomes]
rs2678304	0.87[ASN][1000 genomes]
rs2678305	0.85[ASN][1000 genomes]
rs6717982	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6720532	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721601	0.92[ASN][1000 genomes]
rs6760139	0.86[ASN][1000 genomes]
rs73002191	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7421149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591606	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	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
2	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
3	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
3	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:153375000-153381600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:153375400-153382200	Weak transcription	Fetal Kidney	kidney
6	chr2:153375600-153385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:153376000-153381600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:153376000-153381600	Weak transcription	Fetal Lung	lung
9	chr2:153376000-153381600	Weak transcription	Right Atrium	heart
10	chr2:153376000-153381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:153376000-153381800	Weak transcription	Pancreas	Pancrea
12	chr2:153376000-153382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:153376000-153385200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:153376200-153382800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:153376200-153384800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:153376200-153384800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:153376400-153381800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:153376400-153382000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:153377800-153381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:153377800-153381800	Weak transcription	Small Intestine	intestine
23	chr2:153378000-153381800	Weak transcription	Stomach Mucosa	stomach
24	chr2:153378000-153385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:153378400-153382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:153378400-153382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:153378400-153386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:153378800-153383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:153379000-153381800	Enhancers	HUVEC	blood vessel
30	chr2:153379200-153381600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:153379200-153381800	Enhancers	Osteobl	bone
32	chr2:153379200-153382000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:153379200-153382200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:153379200-153382200	Enhancers	HMEC	breast
35	chr2:153379200-153383200	Enhancers	NHDF-Ad	bronchial
36	chr2:153379800-153381800	Enhancers	NH-A	brain
37	chr2:153380200-153381800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:153380400-153381600	Weak transcription	NHLF	lung
39	chr2:153380400-153383200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:153380600-153381600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:153380800-153381600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:153380800-153381600	Enhancers	A549	lung
43	chr2:153380800-153381600	Enhancers	NHEK	skin
44	chr2:153380800-153383000	Enhancers	Aorta	Aorta
45	chr2:153380800-153383000	Enhancers	Ovary	ovary
46	chr2:153381000-153383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:153381200-153382200	Enhancers	HepG2	liver
48	chr2:153381200-153383000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153381200-153383000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:153381200-153383000	Enhancers	Gastric	stomach

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