Variant report

Variant	rs6718337
Chromosome Location	chr2:153263351-153263352
allele	A/C
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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10174137	0.95[ASN][1000 genomes]
rs13004473	0.95[ASN][1000 genomes]
rs13004494	0.80[AFR][1000 genomes]
rs13022422	0.83[AFR][1000 genomes]
rs16831007	0.82[AFR][1000 genomes]
rs16831018	0.95[ASN][1000 genomes]
rs16831034	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35771051	0.82[AFR][1000 genomes]
rs4664107	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4664576	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs60433007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73967988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73967989	0.95[ASN][1000 genomes]
rs7574699	0.83[AFR][1000 genomes]
rs7576568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:95 , 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	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
6	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:153257600-153266800	Enhancers	HepG2	liver
10	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153259000-153263600	Enhancers	Adipose Nuclei	Adipose
14	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
16	chr2:153259600-153263800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:153259600-153263800	Weak transcription	Spleen	Spleen
18	chr2:153259800-153263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:153260000-153263600	Weak transcription	Fetal Heart	heart
20	chr2:153260000-153263800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:153260200-153263600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:153260200-153264000	Weak transcription	Placenta	Placenta
23	chr2:153260200-153264600	Enhancers	Hela-S3	cervix
24	chr2:153260400-153263600	Weak transcription	Colonic Mucosa	Colon
25	chr2:153260400-153264000	Weak transcription	Fetal Thymus	thymus
26	chr2:153261000-153263400	Enhancers	NHEK	skin
27	chr2:153261000-153263600	Enhancers	Brain Anterior Caudate	brain
28	chr2:153261000-153264600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:153261200-153263600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:153261400-153263600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:153261400-153263600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:153261400-153263800	Weak transcription	Lung	lung
33	chr2:153261400-153264200	Enhancers	HMEC	breast
34	chr2:153261400-153264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:153261400-153264600	Enhancers	Stomach Mucosa	stomach
36	chr2:153261400-153264600	Flanking Active TSS	A549	lung
37	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
38	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:153261600-153263400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:153261600-153263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:153261600-153263400	Enhancers	NH-A	brain
42	chr2:153261600-153263400	Enhancers	NHDF-Ad	bronchial
43	chr2:153261600-153263400	Enhancers	NHLF	lung
44	chr2:153261600-153263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:153261600-153263600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:153261600-153263600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:153261600-153264600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:153261800-153263400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:153261800-153263800	Weak transcription	Gastric	stomach
50	chr2:153261800-153264400	Enhancers	Fetal Kidney	kidney

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