Variant report

Variant	rs10852975
Chromosome Location	chr17:53529144-53529145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:53510149..53511962-chr17:53528014..53529535,2	MCF-7	breast:
2	chr17:53494979..53496930-chr17:53528758..53531638,2	K562	blood:
3	chr17:53507499..53511146-chr17:53526176..53531785,4	K562	blood:
4	chr17:53511989..53513519-chr17:53528992..53531491,2	K562	blood:
5	chr17:53381168..53383739-chr17:53528545..53531230,2	K562	blood:
6	chr17:53525201..53529614-chr17:53530213..53534164,4	MCF-7	breast:
7	chr17:53497846..53499453-chr17:53527764..53530217,2	K562	blood:

Variant related genes	Relation type
ENSG00000108960	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079174	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651780	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12939438	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940283	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4312363	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793796	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7207559	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209034	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7211104	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213973	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8070676	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9303369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303370	0.87[JPT][hapmap]
rs9899662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53522600-53529600	Weak transcription	HMEC	breast
2	chr17:53522800-53529600	Weak transcription	NH-A	brain
3	chr17:53522800-53531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:53524000-53534000	Enhancers	HepG2	liver
5	chr17:53524200-53529600	Weak transcription	GM12878-XiMat	blood
6	chr17:53525800-53530800	Enhancers	Placenta	Placenta
7	chr17:53525800-53531600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:53525800-53534600	Enhancers	Hela-S3	cervix
9	chr17:53526000-53529400	Enhancers	K562	blood
10	chr17:53526000-53529600	Enhancers	A549	lung
11	chr17:53526000-53529800	Enhancers	Fetal Lung	lung
12	chr17:53526000-53534400	Enhancers	Adipose Nuclei	Adipose
13	chr17:53526400-53529800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:53526800-53530600	Enhancers	Fetal Intestine Small	intestine
15	chr17:53527000-53529200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr17:53527000-53529600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:53527000-53532800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:53527400-53529600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:53527600-53529400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:53527600-53530600	Enhancers	Stomach Smooth Muscle	stomach
21	chr17:53527800-53530600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:53527800-53531400	Enhancers	Fetal Stomach	stomach
23	chr17:53527800-53533200	Enhancers	Colon Smooth Muscle	Colon
24	chr17:53528000-53529400	Enhancers	Colonic Mucosa	Colon
25	chr17:53528000-53529800	Weak transcription	Stomach Mucosa	stomach
26	chr17:53528000-53530400	Enhancers	Fetal Kidney	kidney
27	chr17:53528000-53530600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:53528000-53530600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:53528000-53530800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:53528000-53532600	Enhancers	Rectal Smooth Muscle	rectum
31	chr17:53528000-53534400	Enhancers	NHLF	lung
32	chr17:53528200-53536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:53528400-53533000	Enhancers	Liver	Liver
34	chr17:53528400-53534600	Enhancers	NHDF-Ad	bronchial
35	chr17:53528400-53536400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:53528600-53529200	Enhancers	Primary T cells from cord blood	blood
37	chr17:53528600-53529400	Enhancers	Fetal Thymus	thymus
38	chr17:53528600-53529400	Enhancers	Lung	lung
39	chr17:53528600-53529800	Enhancers	Fetal Heart	heart
40	chr17:53528600-53529800	Enhancers	Thymus	Thymus
41	chr17:53528600-53530600	Enhancers	Right Ventricle	heart
42	chr17:53528600-53531800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:53528800-53529800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr17:53528800-53529800	Weak transcription	Left Ventricle	heart
45	chr17:53528800-53530200	Weak transcription	Psoas Muscle	Psoas
46	chr17:53528800-53530600	Enhancers	HUVEC	blood vessel
47	chr17:53528800-53532400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:53528800-53532800	Weak transcription	Fetal Intestine Large	intestine
49	chr17:53528800-53532800	Enhancers	Osteobl	bone
50	chr17:53528800-53533800	Enhancers	Muscle Satellite Cultured Cells	--

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