Variant report

Variant	rs6718584
Chromosome Location	chr2:153263496-153263497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171204	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195727	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931054	0.81[EUR][1000 genomes]
rs13026858	0.87[EUR][1000 genomes]
rs13382410	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398440	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401202	0.81[EUR][1000 genomes]
rs13425532	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346199	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28524736	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434003	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707033	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733002	0.81[EUR][1000 genomes]
rs6740909	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751151	0.81[EUR][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:96 , 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	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
5	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:153257600-153266800	Enhancers	HepG2	liver
8	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:153259000-153263600	Enhancers	Adipose Nuclei	Adipose
12	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
14	chr2:153259600-153263800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:153259600-153263800	Weak transcription	Spleen	Spleen
16	chr2:153259800-153263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:153260000-153263600	Weak transcription	Fetal Heart	heart
18	chr2:153260000-153263800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:153260200-153263600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:153260200-153264000	Weak transcription	Placenta	Placenta
21	chr2:153260200-153264600	Enhancers	Hela-S3	cervix
22	chr2:153260400-153263600	Weak transcription	Colonic Mucosa	Colon
23	chr2:153260400-153264000	Weak transcription	Fetal Thymus	thymus
24	chr2:153261000-153263600	Enhancers	Brain Anterior Caudate	brain
25	chr2:153261000-153264600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:153261200-153263600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:153261400-153263600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:153261400-153263600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:153261400-153263800	Weak transcription	Lung	lung
30	chr2:153261400-153264200	Enhancers	HMEC	breast
31	chr2:153261400-153264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:153261400-153264600	Enhancers	Stomach Mucosa	stomach
33	chr2:153261400-153264600	Flanking Active TSS	A549	lung
34	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
35	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:153261600-153263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:153261600-153263600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:153261600-153263600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:153261600-153264600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:153261800-153263800	Weak transcription	Gastric	stomach
41	chr2:153261800-153264400	Enhancers	Fetal Kidney	kidney
42	chr2:153261800-153266400	Weak transcription	Liver	Liver
43	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:153262000-153263800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:153262000-153263800	Weak transcription	Left Ventricle	heart
46	chr2:153262200-153263600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:153262200-153263600	Weak transcription	Right Atrium	heart
48	chr2:153262200-153263800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:153262200-153263800	Weak transcription	Aorta	Aorta
50	chr2:153262200-153263800	Weak transcription	Ovary	ovary

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