Variant report

Variant	rs11078947
Chromosome Location	chr17:38627349-38627350
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	chr17:38625455..38628892-chr17:38681248..38683657,3	K562	blood:
2	chr17:38626735..38629399-chr17:38631945..38633834,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10153265	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11871535	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17472276	0.91[EUR][1000 genomes]
rs56291600	0.91[EUR][1000 genomes]
rs72819635	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72819636	1.00[EUR][1000 genomes]
rs72819638	1.00[EUR][1000 genomes]
rs72819640	0.97[EUR][1000 genomes]
rs72819643	0.97[EUR][1000 genomes]
rs72819648	0.91[EUR][1000 genomes]
rs8078319	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:38619200-38632000	Weak transcription	Right Atrium	heart
3	chr17:38619600-38627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:38620600-38632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:38621200-38627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:38621200-38627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:38621600-38627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:38623000-38627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:38625400-38628800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:38626200-38628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr17:38626400-38628800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:38626400-38629800	Enhancers	NHEK	skin
13	chr17:38626600-38629000	Enhancers	Osteobl	bone
14	chr17:38626600-38630000	Enhancers	HMEC	breast
15	chr17:38626600-38631600	Enhancers	Fetal Stomach	stomach
16	chr17:38626800-38627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:38627000-38633000	Enhancers	Rectal Smooth Muscle	rectum
18	chr17:38627200-38627400	Enhancers	Gastric	stomach
19	chr17:38627200-38627600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:38627200-38627600	Enhancers	Spleen	Spleen
21	chr17:38627200-38627800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr17:38627200-38627800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:38627200-38627800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:38627200-38627800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:38627200-38627800	Enhancers	Fetal Lung	lung
26	chr17:38627200-38627800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr17:38627200-38627800	Flanking Active TSS	A549	lung
28	chr17:38627200-38628000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr17:38627200-38628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:38627200-38628000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:38627200-38628000	Enhancers	Esophagus	oesophagus
32	chr17:38627200-38628000	Enhancers	K562	blood
33	chr17:38627200-38628400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:38627200-38628600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:38627200-38628800	Enhancers	NH-A	brain
36	chr17:38627200-38628800	Enhancers	NHDF-Ad	bronchial
37	chr17:38627200-38629000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr17:38627200-38629000	Enhancers	NHLF	lung
39	chr17:38627200-38629200	Enhancers	HepG2	liver
40	chr17:38627200-38631800	Enhancers	Placenta	Placenta
41	chr17:38627200-38631800	Enhancers	Hela-S3	cervix
42	chr17:38627200-38632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr17:38627200-38632400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr17:38627200-38633000	Enhancers	Colon Smooth Muscle	Colon
45	chr17:38627200-38633400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:38627200-38633400	Enhancers	Ovary	ovary

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