Variant report

Variant	rs17616316
Chromosome Location	chr14:103822762-103822763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103821483..103823732-chr14:103852385..103854744,2	K562	blood:
2	chr14:103821079..103823394-chr14:103831751..103834974,3	MCF-7	breast:
3	chr14:103821519..103824408-chr14:103850595..103853885,3	K562	blood:
4	chr14:103822657..103824377-chr14:103851274..103853889,2	MCF-7	breast:
5	chr14:103819385..103824278-chr14:103849291..103854654,8	MCF-7	breast:
6	chr14:103819429..103822833-chr14:103836340..103840943,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17616464	1.00[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs2403172	1.00[CEU][hapmap]
rs7155749	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Red blood cell traits	23222517	GWAS catalog

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103811800-103823400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:103820400-103822800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:103820600-103822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:103820600-103822800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:103820800-103822800	Enhancers	HMEC	breast
6	chr14:103821000-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:103821000-103823600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:103821000-103825200	Enhancers	NHEK	skin
9	chr14:103821600-103822800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:103821800-103822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:103821800-103822800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:103821800-103823000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:103821800-103823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:103822000-103822800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:103822000-103822800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:103822000-103822800	Enhancers	Dnd41	blood
17	chr14:103822000-103823000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:103822000-103823000	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:103822000-103823000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:103822200-103822800	Enhancers	Pancreas	Pancrea
21	chr14:103822400-103822800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:103822400-103822800	Flanking Active TSS	K562	blood
23	chr14:103822400-103822800	Active TSS	NHLF	lung
24	chr14:103822400-103823400	Weak transcription	Hela-S3	cervix
25	chr14:103822400-103824400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:103822400-103826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:103822600-103822800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:103822600-103822800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:103822600-103822800	Active TSS	Ovary	ovary
30	chr14:103822600-103823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:103822600-103823400	Weak transcription	Spleen	Spleen
32	chr14:103822600-103823800	Enhancers	HepG2	liver
33	chr14:103822600-103824400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:103822600-103827000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:103822600-103828200	Weak transcription	A549	lung

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