Variant report

Variant	rs685743
Chromosome Location	chr1:210505532-210505533
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210497683..210507034-chr1:210544536..210549319,22	MCF-7	breast:
2	chr1:210499363..210504206-chr1:210504461..210511314,11	MCF-7	breast:
3	chr1:210503754..210505570-chr1:210544608..210547185,2	MCF-7	breast:
4	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000054392	Chromatin interaction

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

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

rs_ID	r²[population]
rs11119446	1.00[EUR][1000 genomes]
rs55792645	1.00[EUR][1000 genomes]
rs55884682	1.00[EUR][1000 genomes]
rs56215802	1.00[EUR][1000 genomes]
rs56397999	1.00[EUR][1000 genomes]
rs59742593	1.00[EUR][1000 genomes]
rs621684	1.00[EUR][1000 genomes]
rs653935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs663132	1.00[EUR][1000 genomes]
rs663987	1.00[EUR][1000 genomes]
rs73074137	1.00[EUR][1000 genomes]
rs74156132	1.00[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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503000-210505600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:210503000-210506000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:210503200-210505600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:210503200-210506400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:210503200-210506600	Enhancers	Fetal Heart	heart
6	chr1:210503200-210507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:210503200-210507400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:210503200-210516800	Weak transcription	Lung	lung
9	chr1:210503400-210505600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:210503800-210505800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:210504000-210505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:210504000-210505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:210504000-210505600	Weak transcription	Fetal Thymus	thymus
15	chr1:210504000-210506400	Weak transcription	Dnd41	blood
16	chr1:210504200-210505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:210504200-210505600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:210504200-210505600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:210504200-210505600	Weak transcription	NHEK	skin
20	chr1:210504200-210505800	Weak transcription	HMEC	breast
21	chr1:210504200-210506000	Weak transcription	Left Ventricle	heart
22	chr1:210504200-210508200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:210504200-210512800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:210504400-210505600	Enhancers	GM12878-XiMat	blood
25	chr1:210504400-210507200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:210504400-210514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:210504400-210516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:210504600-210507600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:210504800-210506600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:210505200-210506600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:210505200-210506800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:210505200-210507400	Enhancers	Thymus	Thymus
33	chr1:210505400-210506000	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:210505400-210506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:210505400-210507000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:210505400-210507000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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