Variant report

Variant	rs12943899
Chromosome Location	chr17:38250318-38250319
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38249491..38251569-chr17:38277588..38279331,2	MCF-7	breast:
2	chr17:38204674..38206767-chr17:38247460..38250330,2	K562	blood:
3	chr17:38217086..38220417-chr17:38248727..38251923,3	K562	blood:
4	chr17:38249917..38251437-chr3:73158602..73161441,2	K562	blood:
5	chr17:38248437..38251437-chr17:41398876..41400576,3	K562	blood:
6	chr11:62607633..62610630-chr17:38249917..38251437,2	K562	blood:
7	chr17:38248417..38251417-chr17:41464633..41467672,3	K562	blood:

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2227329	1.00[MEX][hapmap]
rs2227330	1.00[MEX][hapmap]

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	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38239600-38250600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:38239600-38251200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:38239600-38252000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:38239800-38250400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:38239800-38250600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:38239800-38251600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:38239800-38251800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:38239800-38252200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:38239800-38253600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:38240000-38251200	Strong transcription	Thymus	Thymus
11	chr17:38240200-38250400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr17:38243600-38252400	Weak transcription	HUVEC	blood vessel
13	chr17:38243800-38254800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:38244600-38253800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr17:38245000-38251400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:38245000-38254200	Weak transcription	Fetal Kidney	kidney
17	chr17:38245400-38254000	Genic enhancers	Right Ventricle	heart
18	chr17:38245400-38254800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr17:38246200-38251800	Enhancers	Fetal Brain Male	brain
20	chr17:38246600-38253000	Genic enhancers	Brain Cingulate Gyrus	brain
21	chr17:38246800-38251600	Strong transcription	Placenta	Placenta
22	chr17:38246800-38252400	Strong transcription	Fetal Intestine Large	intestine
23	chr17:38247000-38254400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:38247400-38252200	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr17:38247800-38250400	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr17:38247800-38252000	Genic enhancers	Colon Smooth Muscle	Colon
27	chr17:38248000-38250800	Genic enhancers	NHLF	lung
28	chr17:38248000-38251800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:38248000-38252600	Genic enhancers	Adipose Nuclei	Adipose
30	chr17:38248200-38251200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:38248200-38254400	Genic enhancers	Fetal Thymus	thymus
32	chr17:38248400-38250400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:38248400-38251600	Strong transcription	Fetal Intestine Small	intestine
34	chr17:38248600-38251400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:38248600-38251600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:38248600-38251600	Strong transcription	Fetal Stomach	stomach
37	chr17:38248600-38253600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:38248600-38254400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:38248800-38252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:38249000-38250600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:38249000-38250800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr17:38249000-38253800	Strong transcription	Dnd41	blood
43	chr17:38249000-38255200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr17:38249200-38250600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:38249200-38250800	Genic enhancers	Ovary	ovary
46	chr17:38249200-38251200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:38249200-38252600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:38249200-38252600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:38249200-38252600	Enhancers	Psoas Muscle	Psoas
50	chr17:38249200-38253400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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