Variant report

Variant	rs590883
Chromosome Location	chr1:210506168-210506169
allele	C/T
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	chr1:210505702..210510006-chr1:210545251..210547944,5	K562	blood:
4	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:

Variant related genes	Relation type
ENSG00000054392	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489387	0.83[ASN][1000 genomes]
rs1883655	0.89[ASN][1000 genomes]
rs2015743	0.83[ASN][1000 genomes]
rs2103691	0.89[ASN][1000 genomes]
rs2143590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294847	0.84[ASN][1000 genomes]
rs2294848	0.84[ASN][1000 genomes]
rs3765873	0.83[ASN][1000 genomes]
rs3765880	0.89[ASN][1000 genomes]
rs589027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540590	0.82[ASN][1000 genomes]
rs655213	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs684767	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761172	0.82[ASN][1000 genomes]
rs764585	0.91[ASN][1000 genomes]
rs910028	0.83[ASN][1000 genomes]
rs9970232	0.83[ASN][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503200-210506400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:210503200-210506600	Enhancers	Fetal Heart	heart
3	chr1:210503200-210507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:210503200-210507400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:210503200-210516800	Weak transcription	Lung	lung
6	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:210504000-210506400	Weak transcription	Dnd41	blood
8	chr1:210504200-210508200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:210504200-210512800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210504400-210507200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:210504400-210514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:210504400-210516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:210504600-210507600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:210504800-210506600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:210505200-210506600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:210505200-210506800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:210505200-210507400	Enhancers	Thymus	Thymus
18	chr1:210505400-210506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:210505400-210507000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:210505400-210507000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:210505600-210506200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:210505600-210506200	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:210505600-210506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:210505600-210506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:210505600-210506600	Enhancers	NHEK	skin
26	chr1:210505600-210506800	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:210505600-210506800	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:210505600-210506800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:210505600-210507200	Enhancers	Fetal Thymus	thymus
30	chr1:210505800-210506600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:210505800-210506600	Enhancers	HMEC	breast
32	chr1:210505800-210506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:210506000-210506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:210506000-210506600	Enhancers	Left Ventricle	heart

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