Variant report

Variant	rs11971191
Chromosome Location	chr7:111819901-111819902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111818564..111821167-chr7:111822275..111824445,2	K562	blood:
2	chr7:111814246..111816413-chr7:111818378..111820395,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10238141	0.91[CHB][hapmap]
rs10428921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487346	0.95[ASN][1000 genomes]
rs10487347	0.95[ASN][1000 genomes]
rs10953705	0.95[ASN][1000 genomes]
rs10953708	0.83[CHB][hapmap]
rs11535292	0.95[ASN][1000 genomes]
rs11535293	0.95[ASN][1000 genomes]
rs11536572	0.95[ASN][1000 genomes]
rs11543795	0.95[ASN][1000 genomes]
rs11762310	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764346	0.95[ASN][1000 genomes]
rs11764420	0.95[ASN][1000 genomes]
rs11764460	0.95[ASN][1000 genomes]
rs11765157	0.95[ASN][1000 genomes]
rs11765160	0.95[ASN][1000 genomes]
rs11767847	0.95[ASN][1000 genomes]
rs11767977	0.95[ASN][1000 genomes]
rs11768012	0.95[ASN][1000 genomes]
rs11768608	0.83[CHB][hapmap]
rs11768647	0.95[ASN][1000 genomes]
rs11770767	0.83[CHB][hapmap]
rs11772020	0.95[ASN][1000 genomes]
rs16873374	0.83[CHB][hapmap]
rs17159328	0.95[ASN][1000 genomes]
rs17159330	1.00[ASN][1000 genomes]
rs17159336	1.00[ASN][1000 genomes]
rs17567733	0.95[ASN][1000 genomes]
rs17567768	0.95[ASN][1000 genomes]
rs2523039	1.00[CEU][hapmap]
rs2708604	1.00[CEU][hapmap]
rs3801797	1.00[ASN][1000 genomes]
rs3807884	0.83[CHB][hapmap]
rs4730516	0.83[CHB][hapmap]
rs62476051	0.89[AFR][1000 genomes]
rs7781245	0.83[CHB][hapmap]
rs7795336	0.83[CHB][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11971191	WFDC9	trans	cerebellum	SCAN
rs11971191	C7orf53	cis	cerebellum	SCAN
rs11971191	TFEC	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111803000-111825400	Weak transcription	NHEK	skin
3	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:111808800-111822800	Weak transcription	Pancreas	Pancrea
6	chr7:111812000-111824200	Enhancers	Brain Substantia Nigra	brain
7	chr7:111812400-111822400	Enhancers	Brain Anterior Caudate	brain
8	chr7:111813800-111820400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:111813800-111821200	Enhancers	Brain Hippocampus Middle	brain
10	chr7:111814000-111820200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:111814000-111820200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:111814000-111823800	Weak transcription	Liver	Liver
13	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
14	chr7:111814200-111820200	Weak transcription	Right Atrium	heart
15	chr7:111814400-111820200	Weak transcription	Left Ventricle	heart
16	chr7:111814400-111824200	Weak transcription	Adipose Nuclei	Adipose
17	chr7:111814600-111820200	Weak transcription	Right Ventricle	heart
18	chr7:111815800-111821200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:111816000-111822800	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:111816600-111820200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:111817200-111826200	Enhancers	Brain Angular Gyrus	brain
22	chr7:111817400-111822800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:111817600-111820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:111817600-111820400	Weak transcription	Ovary	ovary
26	chr7:111817800-111820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:111818200-111823400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:111818600-111820200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:111818600-111821800	Weak transcription	HepG2	liver
30	chr7:111818800-111820400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:111819400-111820000	Weak transcription	Psoas Muscle	Psoas
32	chr7:111819400-111820200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:111819400-111820400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:111819400-111820800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:111819400-111821000	Enhancers	HUVEC	blood vessel
36	chr7:111819600-111820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:111819600-111820400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:111819800-111820400	Active TSS	Aorta	Aorta
39	chr7:111819800-111821600	Enhancers	Fetal Brain Male	brain
40	chr7:111819800-111822400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:111819800-111824600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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