Variant report

Variant	rs4636103
Chromosome Location	chr7:21937988-21937989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11763022	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11763025	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11763665	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763709	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769521	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540021	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs17361667	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs4487645	0.87[MEX][hapmap];0.88[AMR][1000 genomes]
rs56333627	0.81[AMR][1000 genomes]
rs57104699	0.83[AMR][1000 genomes]
rs7971	0.85[CHB][hapmap];0.92[JPT][hapmap];0.82[MEX][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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4636103	ADAMTSL5	trans	parietal	SCAN
rs4636103	TWIST1	cis	cerebellum	SCAN
rs4636103	CDCA7L	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21910000-21939400	Weak transcription	Left Ventricle	heart
2	chr7:21911200-21938400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:21917000-21938400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:21923200-21938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:21924400-21945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:21926600-21942600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:21926800-21938000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:21926800-21939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:21927800-21938400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:21927800-21940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:21928000-21942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:21928200-21938600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:21928200-21939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:21928800-21938400	Weak transcription	NHDF-Ad	bronchial
15	chr7:21929200-21938000	Weak transcription	Fetal Lung	lung
16	chr7:21929800-21938000	Weak transcription	Right Ventricle	heart
17	chr7:21930800-21938400	Weak transcription	Esophagus	oesophagus
18	chr7:21931000-21942400	Weak transcription	Fetal Kidney	kidney
19	chr7:21932600-21938000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:21932600-21938200	Weak transcription	Hela-S3	cervix
21	chr7:21932600-21938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:21932600-21938400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:21932600-21942000	Weak transcription	Brain Germinal Matrix	brain
24	chr7:21932600-21951000	Weak transcription	HSMM	muscle
25	chr7:21932800-21938800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:21933000-21963200	Weak transcription	A549	lung
27	chr7:21933600-21939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:21934000-21950400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:21934200-21951600	Weak transcription	Fetal Brain Male	brain
30	chr7:21935200-21942200	Weak transcription	HMEC	breast
31	chr7:21936400-21938000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:21936400-21938000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:21936400-21938000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:21936400-21938000	Weak transcription	Pancreas	Pancrea
35	chr7:21936400-21942400	Weak transcription	NH-A	brain
36	chr7:21936600-21938400	Weak transcription	NHLF	lung
37	chr7:21936600-21938600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:21936600-21939000	Weak transcription	Fetal Intestine Large	intestine
39	chr7:21936600-21942000	Weak transcription	HSMMtube	muscle
40	chr7:21936600-21956400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:21936600-21956600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:21936800-21938400	Weak transcription	Ovary	ovary
43	chr7:21936800-21938400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:21936800-21939000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:21936800-21945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:21936800-21945200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:21937000-21938200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:21937000-21939000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:21937000-21939000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:21937000-21942200	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links