Variant report

Variant	rs10948099
Chromosome Location	chr6:43798241-43798242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43797469..43800161-chr6:43930572..43932746,2	K562	blood:
2	chr6:43798104..43799799-chr6:43799892..43801618,2	K562	blood:
3	chr6:43798194..43802025-chr6:43802068..43806574,6	K562	blood:
4	chr6:43736553..43739610-chr6:43795420..43801338,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272114	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16897100	1.00[CEU][hapmap]
rs16897102	1.00[CEU][hapmap]
rs6458353	1.00[CEU][hapmap]
rs7768780	1.00[CEU][hapmap]
rs9394966	1.00[CEU][hapmap]
rs9472122	1.00[CEU][hapmap]
rs9472148	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv428480	chr6:43764313-43929172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43767800-43836000	Weak transcription	Right Atrium	heart
2	chr6:43792200-43810800	Weak transcription	Fetal Heart	heart
3	chr6:43792400-43801000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:43792600-43798600	Weak transcription	Colonic Mucosa	Colon
5	chr6:43792600-43801200	Weak transcription	A549	lung
6	chr6:43793200-43798600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:43793400-43801800	Weak transcription	Fetal Kidney	kidney
8	chr6:43793800-43800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:43793800-43830800	Weak transcription	Spleen	Spleen
10	chr6:43794400-43801400	Weak transcription	Fetal Lung	lung
11	chr6:43795000-43799200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:43795800-43800000	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:43796000-43798400	Weak transcription	Stomach Mucosa	stomach
14	chr6:43796000-43801200	Weak transcription	Lung	lung
15	chr6:43796200-43798400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:43796400-43799000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:43796800-43798800	Weak transcription	K562	blood
18	chr6:43796800-43800800	Weak transcription	Gastric	stomach
19	chr6:43797400-43807200	Enhancers	Fetal Intestine Small	intestine
20	chr6:43797600-43799000	Enhancers	Small Intestine	intestine
21	chr6:43798000-43799400	Enhancers	Pancreas	Pancrea
22	chr6:43798000-43807200	Enhancers	Fetal Intestine Large	intestine
23	chr6:43798200-43799800	Enhancers	Rectal Mucosa Donor 31	rectum

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