Variant report

Variant	rs17129685
Chromosome Location	chr1:67636589-67636590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67635692..67638633-chr1:67640217..67642877,2	K562	blood:
2	chr1:67631404..67633226-chr1:67635317..67637681,2	K562	blood:

Variant related genes	Relation type
ENSG00000162594	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11465747	0.81[AFR][1000 genomes]
rs11465760	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11465765	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11465767	0.91[AFR][1000 genomes]
rs11465772	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11465773	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11465775	0.94[AFR][1000 genomes]
rs11465776	0.94[AFR][1000 genomes]
rs11465777	0.94[AFR][1000 genomes]
rs17129678	0.81[AFR][1000 genomes]
rs17129690	0.94[AFR][1000 genomes]
rs17129692	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs59613471	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67631400-67637800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:67633400-67637400	Weak transcription	Left Ventricle	heart
3	chr1:67635000-67636800	Enhancers	HepG2	liver
4	chr1:67635200-67637800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:67635200-67639200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:67635600-67636600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:67635600-67637600	Enhancers	Dnd41	blood
8	chr1:67635800-67638600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:67636000-67637600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:67636000-67637600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:67636000-67637600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:67636000-67637800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:67636200-67636600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:67636200-67636600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:67636200-67637800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:67636200-67637800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:67636200-67638000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr1:67636200-67638400	Enhancers	GM12878-XiMat	blood
19	chr1:67636200-67638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:67636400-67636600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr1:67636400-67636600	Flanking Active TSS	Liver	Liver
22	chr1:67636400-67636800	Bivalent Enhancer	Thymus	Thymus
23	chr1:67636400-67637000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:67636400-67637000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:67636400-67637000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:67636400-67637200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:67636400-67637800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:67636400-67637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:67636400-67637800	Enhancers	Fetal Thymus	thymus
30	chr1:67636400-67637800	Enhancers	Small Intestine	intestine

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