Variant report

Variant	rs1072070
Chromosome Location	chr17:38686985-38686986
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38655284..38659044-chr17:38686692..38691600,6	MCF-7	breast:
2	chr17:38603867..38606731-chr17:38684868..38687351,2	MCF-7	breast:
3	chr17:38569158..38571862-chr17:38686767..38689398,2	K562	blood:
4	chr17:38620514..38622716-chr17:38686553..38688120,2	K562	blood:
5	chr17:38681724..38683974-chr17:38685215..38687407,2	K562	blood:
6	chr17:38679491..38681189-chr17:38685861..38688027,2	MCF-7	breast:
7	chr17:38685508..38688282-chr17:38688422..38690348,2	MCF-7	breast:
8	chr17:38594386..38596625-chr17:38685591..38688253,2	MCF-7	breast:
9	chr17:38595245..38602220-chr17:38686762..38692136,14	MCF-7	breast:
10	chr17:38597490..38601746-chr17:38686793..38692185,8	MCF-7	breast:
11	chr17:38573012..38575027-chr17:38685953..38689242,3	K562	blood:
12	chr17:38681809..38684806-chr17:38685907..38689977,4	K562	blood:
13	chr17:38686790..38691109-chr17:38691407..38694438,4	K562	blood:
14	chr17:38599626..38601535-chr17:38686710..38689693,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000266088	Chromatin interaction
ENSG00000240125	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11871009	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965857	0.87[EUR][1000 genomes]
rs16965864	0.87[EUR][1000 genomes]
rs28485796	0.87[EUR][1000 genomes]
rs3866675	0.87[EUR][1000 genomes]
rs4890088	0.83[ASN][1000 genomes]
rs56151683	0.87[EUR][1000 genomes]
rs60411936	1.00[ASN][1000 genomes]
rs7208120	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208316	1.00[ASN][1000 genomes]
rs7212543	1.00[ASN][1000 genomes]
rs7222478	0.87[EUR][1000 genomes]
rs73983076	0.83[ASN][1000 genomes]
rs73983078	1.00[ASN][1000 genomes]
rs8064741	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064890	0.87[EUR][1000 genomes]
rs8065657	0.87[EUR][1000 genomes]
rs8077724	1.00[ASN][1000 genomes]
rs9894865	0.87[EUR][1000 genomes]
rs9899509	0.87[EUR][1000 genomes]
rs9909468	0.87[EUR][1000 genomes]
rs9910719	0.87[EUR][1000 genomes]
rs9915820	0.87[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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38677600-38687800	Weak transcription	Right Ventricle	heart
2	chr17:38681200-38688600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:38682600-38689000	Weak transcription	HepG2	liver
4	chr17:38683200-38688400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:38683200-38688600	Weak transcription	NHDF-Ad	bronchial
6	chr17:38683200-38688800	Weak transcription	Spleen	Spleen
7	chr17:38683200-38689200	Weak transcription	Left Ventricle	heart
8	chr17:38683600-38690000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:38683800-38691000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:38683800-38691200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr17:38684200-38688400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:38684200-38689200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:38684200-38689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:38684200-38691200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr17:38684200-38691200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr17:38684200-38691400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr17:38684200-38697000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:38684400-38687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:38684600-38689600	Enhancers	Primary T cells from cord blood	blood
20	chr17:38684800-38688800	Enhancers	A549	lung
21	chr17:38685200-38691400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:38685600-38687000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:38685800-38688000	Weak transcription	K562	blood
24	chr17:38685800-38688200	Enhancers	Placenta	Placenta
25	chr17:38685800-38688600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:38686200-38689200	Enhancers	Hela-S3	cervix
27	chr17:38686400-38687000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr17:38686400-38691200	Enhancers	Primary B cells from peripheral blood	blood
29	chr17:38686400-38691200	Enhancers	Osteobl	bone
30	chr17:38686400-38698200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:38686600-38687000	Flanking Active TSS	NHEK	skin
32	chr17:38686600-38687200	Enhancers	GM12878-XiMat	blood
33	chr17:38686600-38687400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr17:38686600-38687400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:38686600-38687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:38686600-38687600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr17:38686600-38688200	Enhancers	Esophagus	oesophagus
38	chr17:38686600-38690000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:38686600-38690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:38686600-38690600	Enhancers	HMEC	breast
41	chr17:38686600-38691200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:38686600-38692600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:38686600-38697200	Enhancers	Fetal Thymus	thymus
44	chr17:38686800-38687000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:38686800-38687000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:38686800-38687200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:38686800-38687200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr17:38686800-38687200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:38686800-38687400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:38686800-38687600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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