Variant report

Variant	rs7568218
Chromosome Location	chr2:39174694-39174695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39174319..39175858-chr2:39276542..39278839,2	MCF-7	breast:
2	chr2:39163314..39166525-chr2:39171929..39175793,3	K562	blood:
3	chr2:39172326..39176681-chr2:39177531..39182855,6	MCF-7	breast:
4	chr2:39174337..39175005-chr2:39235399..39236286,2	MCF-7	breast:
5	chr2:39132185..39134413-chr2:39174424..39176269,2	MCF-7	breast:
6	chr2:39172245..39175096-chr2:39187923..39190594,2	K562	blood:
7	chr2:39174597..39175476-chr2:39456719..39457650,2	K562	blood:
8	chr2:39174230..39175094-chr2:39262927..39263641,2	MCF-7	breast:
9	chr2:38977105..38979831-chr2:39174681..39177265,2	K562	blood:
10	chr2:38976978..38979313-chr2:39173695..39176533,3	K562	blood:
11	chr2:39168472..39170818-chr2:39173355..39175585,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115904	Chromatin interaction
ENSG00000265905	Chromatin interaction
ENSG00000205111	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17023202	1.00[CEU][hapmap]
rs17023212	1.00[CEU][hapmap]
rs34380388	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs56753343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
4	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
5	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
6	chr2:39163200-39176000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:39163800-39183600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:39170400-39175600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:39171200-39175400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:39171600-39176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:39173600-39176000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:39173800-39175800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:39174000-39174800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:39174000-39175000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:39174000-39175000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:39174000-39175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:39174200-39174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:39174200-39174800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:39174200-39174800	Enhancers	HUVEC	blood vessel
20	chr2:39174200-39175000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:39174200-39175000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:39174200-39175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:39174200-39175000	Flanking Active TSS	A549	lung
24	chr2:39174200-39175000	Enhancers	NH-A	brain
25	chr2:39174200-39175000	Enhancers	NHEK	skin
26	chr2:39174200-39175200	Enhancers	HMEC	breast
27	chr2:39174400-39174800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:39174400-39174800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:39174400-39175000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:39174400-39175000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:39174400-39175000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:39174400-39175000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:39174400-39175000	Enhancers	Ovary	ovary
34	chr2:39174400-39175200	Flanking Active TSS	HepG2	liver
35	chr2:39174400-39175600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:39174400-39176800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:39174600-39174800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:39174600-39174800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:39174600-39174800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:39174600-39174800	Enhancers	NHLF	lung
41	chr2:39174600-39175000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:39174600-39175000	Flanking Active TSS	Hela-S3	cervix
43	chr2:39174600-39175000	Enhancers	Osteobl	bone
44	chr2:39174600-39175200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:39174600-39175200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:39174600-39175200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:39174600-39176800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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