Variant report

Variant	rs6718081
Chromosome Location	chr2:153263124-153263125
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:
2	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:

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	0.83[AFR][1000 genomes];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	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707033	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718584	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:94 , 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	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
6	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
7	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:153257600-153263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:153257600-153266800	Enhancers	HepG2	liver
12	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:153258000-153263200	Weak transcription	Osteobl	bone
15	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:153259000-153263600	Enhancers	Adipose Nuclei	Adipose
17	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
19	chr2:153259600-153263800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:153259600-153263800	Weak transcription	Spleen	Spleen
21	chr2:153259800-153263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:153260000-153263600	Weak transcription	Fetal Heart	heart
23	chr2:153260000-153263800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:153260200-153263600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:153260200-153264000	Weak transcription	Placenta	Placenta
26	chr2:153260200-153264600	Enhancers	Hela-S3	cervix
27	chr2:153260400-153263600	Weak transcription	Colonic Mucosa	Colon
28	chr2:153260400-153264000	Weak transcription	Fetal Thymus	thymus
29	chr2:153261000-153263400	Enhancers	NHEK	skin
30	chr2:153261000-153263600	Enhancers	Brain Anterior Caudate	brain
31	chr2:153261000-153264600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:153261200-153263600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:153261400-153263600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:153261400-153263600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:153261400-153263800	Weak transcription	Lung	lung
36	chr2:153261400-153264200	Enhancers	HMEC	breast
37	chr2:153261400-153264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:153261400-153264600	Enhancers	Stomach Mucosa	stomach
39	chr2:153261400-153264600	Flanking Active TSS	A549	lung
40	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
41	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:153261600-153263400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:153261600-153263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:153261600-153263400	Enhancers	NH-A	brain
45	chr2:153261600-153263400	Enhancers	NHDF-Ad	bronchial
46	chr2:153261600-153263400	Enhancers	NHLF	lung
47	chr2:153261600-153263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:153261600-153263600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:153261600-153263600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:153261600-153264600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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