Variant report

Variant	rs7117070
Chromosome Location	chr11:87019645-87019646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17759502	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17821321	0.83[ASW][hapmap];0.84[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276103	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36125179	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4545589	0.83[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2829956	chr11:86872504-87025059	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
8	esv2429813	chr11:87018698-87020019	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7117070	C11orf73	cis	parietal	SCAN
rs7117070	PRSS23	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86992600-87020600	Weak transcription	Liver	Liver
2	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:87006400-87030600	Weak transcription	Dnd41	blood
4	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
6	chr11:87011800-87024000	Weak transcription	Fetal Brain Female	brain
7	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:87012000-87024600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:87012200-87020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:87012600-87031000	Weak transcription	Primary T cells from cord blood	blood
17	chr11:87012600-87032200	Weak transcription	Brain Anterior Caudate	brain
18	chr11:87012600-87032200	Weak transcription	Fetal Intestine Large	intestine
19	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:87013200-87024000	Weak transcription	Esophagus	oesophagus
23	chr11:87013200-87025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:87013200-87032400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:87013400-87021200	Weak transcription	HSMMtube	muscle
27	chr11:87013400-87032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:87013400-87032200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:87013400-87032200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:87013800-87032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:87013800-87033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:87014000-87032200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:87014200-87020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:87014200-87034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:87015000-87021600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
38	chr11:87015800-87020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:87015800-87028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
41	chr11:87016000-87022000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:87016000-87030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:87016000-87030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:87017400-87033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:87017600-87032800	Weak transcription	K562	blood
47	chr11:87017800-87021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:87017800-87030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:87017800-87032200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:87017800-87035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links