Variant report

Variant	rs1999630
Chromosome Location	chr6:82530490-82530491
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	chr6:82476333..82478960-chr6:82529549..82531643,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1034241	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11961442	0.89[EUR][1000 genomes]
rs11969940	0.89[EUR][1000 genomes]
rs13197670	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13212198	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13212500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13214556	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16893463	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16893491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16893518	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs16893523	0.86[EUR][1000 genomes]
rs16893524	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16893526	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893572	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893614	0.91[EUR][1000 genomes]
rs1931644	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1931646	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs194618	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs194620	0.88[EUR][1000 genomes]
rs34411814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34663254	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34696161	0.86[EUR][1000 genomes]
rs34723068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35039823	0.84[EUR][1000 genomes]
rs35392002	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35419006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35538583	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4476879	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56021267	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6454240	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs66652550	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67263687	0.86[EUR][1000 genomes]
rs72899496	0.81[AMR][1000 genomes];0.86[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	nsv830712	chr6:82491029-82654531	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82517200-82530600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:82522800-82531400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:82523800-82532600	Enhancers	Stomach Mucosa	stomach
4	chr6:82528000-82532000	Enhancers	Primary B cells from cord blood	blood
5	chr6:82528000-82532400	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:82528600-82530800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:82529000-82530600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:82529000-82530600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:82529000-82530800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:82529000-82532600	Enhancers	HepG2	liver
11	chr6:82529400-82530600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:82529400-82544000	Weak transcription	Right Atrium	heart
13	chr6:82529600-82530600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:82529600-82532200	Weak transcription	Gastric	stomach
15	chr6:82530000-82530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:82530000-82530800	Enhancers	Fetal Intestine Small	intestine
17	chr6:82530200-82530600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr6:82530200-82530600	Enhancers	Fetal Lung	lung
19	chr6:82530200-82530600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:82530200-82530800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:82530200-82531000	Flanking Active TSS	Liver	Liver
22	chr6:82530200-82531200	Enhancers	Fetal Intestine Large	intestine
23	chr6:82530200-82531200	Enhancers	Ovary	ovary
24	chr6:82530200-82531200	Enhancers	Small Intestine	intestine
25	chr6:82530400-82530600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:82530400-82530800	Active TSS	Colonic Mucosa	Colon
27	chr6:82530400-82531000	Active TSS	Pancreatic Islets	Pancreatic Islet

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