Variant report

Variant	rs7691873
Chromosome Location	chr4:103987899-103987900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103986693..103989619-chr4:103992122..103998066,6	K562	blood:
2	chr4:103986921..103988548-chr4:103988584..103991444,2	K562	blood:
3	chr4:103747245..103749359-chr4:103986696..103989097,2	K562	blood:
4	chr4:103982857..103988298-chr4:103995441..103998118,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000164038	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10006474	0.84[GIH][hapmap];0.85[JPT][hapmap]
rs10025625	0.85[YRI][hapmap]
rs10516495	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs10516496	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs11946020	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs13113099	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13149311	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13150953	0.93[GIH][hapmap];0.86[JPT][hapmap]
rs1481279	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17033384	0.85[YRI][hapmap]
rs34475639	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs4699048	0.82[JPT][hapmap]
rs6816370	0.86[JPT][hapmap]
rs6843738	0.84[GIH][hapmap];0.86[JPT][hapmap]
rs7665026	0.84[GIH][hapmap];0.86[JPT][hapmap]
rs7665217	0.83[AMR][1000 genomes]
rs7674212	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs7675837	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7691873	LRRC37A15P	cis	lung	GTEx
rs7691873	ADH7	cis	cerebellum	SCAN
rs7691873	BDH2	cis	Whole Blood	GTEx
rs7691873	MANBA	cis	multi-tissue	Pritchard
rs7691873	CISD2	cis	cerebellum	SCAN
rs7691873	KRT8P46	cis	lung	GTEx
rs7691873	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs7691873	LRRC37A15P	cis	Adipose Subcutaneous	GTEx
rs7691873	NHEDC1	cis	cerebellum	SCAN
rs7691873	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs7691873	MANBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103941400-103989400	Weak transcription	NH-A	brain
2	chr4:103941400-103996600	Weak transcription	Lung	lung
3	chr4:103941600-103989000	Weak transcription	HMEC	breast
4	chr4:103941800-103994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:103942000-103994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:103942000-103995200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:103947800-103996000	Weak transcription	Brain Angular Gyrus	brain
8	chr4:103952400-103994600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:103952800-103996600	Weak transcription	Fetal Stomach	stomach
10	chr4:103954000-103996200	Weak transcription	Gastric	stomach
11	chr4:103957600-103995400	Weak transcription	Ovary	ovary
12	chr4:103960800-103991200	Weak transcription	Psoas Muscle	Psoas
13	chr4:103962800-103995000	Weak transcription	Small Intestine	intestine
14	chr4:103963600-103996600	Weak transcription	Pancreas	Pancrea
15	chr4:103965800-103994800	Weak transcription	K562	blood
16	chr4:103966000-103995400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:103966000-103996600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:103966600-103996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:103968400-103996200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:103970000-103989000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:103970200-103995000	Weak transcription	Fetal Brain Male	brain
22	chr4:103970200-103996600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:103970400-103996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:103970600-103996000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:103970600-103996200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:103970800-103995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:103970800-103995400	Weak transcription	Primary B cells from cord blood	blood
28	chr4:103970800-103996000	Weak transcription	Primary T cells from cord blood	blood
29	chr4:103970800-103996600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:103971000-103996000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:103971000-103996200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:103971200-103995400	Weak transcription	Brain Anterior Caudate	brain
33	chr4:103971200-103996200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:103971200-103996200	Weak transcription	Left Ventricle	heart
35	chr4:103971400-103995200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:103971400-103996200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:103971600-103994400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:103971600-103996600	Weak transcription	Fetal Thymus	thymus
39	chr4:103972200-103996800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:103972600-103996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:103972600-103996200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:103972600-103996600	Weak transcription	Aorta	Aorta
43	chr4:103972800-103989000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:103972800-103989000	Weak transcription	NHEK	skin
45	chr4:103972800-103996200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:103973000-103989200	Weak transcription	NHDF-Ad	bronchial
47	chr4:103979800-103993800	Weak transcription	Hela-S3	cervix
48	chr4:103982200-103988000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:103983000-103989800	Strong transcription	Dnd41	blood
50	chr4:103983400-103994400	Weak transcription	Fetal Brain Female	brain

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