Variant report

Variant	rs7101608
Chromosome Location	chr11:63371720-63371721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10792420	0.98[ASN][1000 genomes]
rs10897438	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897439	0.81[ASN][1000 genomes]
rs11231528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11600655	0.93[ASN][1000 genomes]
rs11601432	0.88[ASN][1000 genomes]
rs2030731	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3809072	0.92[ASN][1000 genomes]
rs3809073	0.92[ASN][1000 genomes]
rs586713	0.96[ASN][1000 genomes]
rs59386292	0.80[ASN][1000 genomes]
rs627194	0.93[ASN][1000 genomes]
rs7111905	0.95[ASN][1000 genomes]
rs7115616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131579	0.93[ASN][1000 genomes]
rs7940076	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7101608	SNORA57	cis	cerebellum	SCAN
rs7101608	HRASLS3	cis	multi-tissue	Pritchard
rs7101608	PLA2G16	cis	cerebellum	SCAN
rs7101608	TRMT112	cis	cerebellum	SCAN
rs7101608	TIGD3	cis	cerebellum	SCAN
rs7101608	PLA2G16	cis	lymphoblastoid	seeQTL
rs7101608	SCGB2A1	cis	parietal	SCAN
rs7101608	NPAS4	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63343000-63376600	Weak transcription	Colonic Mucosa	Colon
2	chr11:63350000-63375800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:63350200-63377000	Weak transcription	Hela-S3	cervix
4	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:63357600-63380400	Weak transcription	NHLF	lung
6	chr11:63357800-63374200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:63358800-63377000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:63359600-63375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:63361200-63376800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:63361600-63373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:63362000-63378000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:63363000-63377000	Weak transcription	Esophagus	oesophagus
13	chr11:63364600-63376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:63365600-63373400	Weak transcription	Gastric	stomach
15	chr11:63366400-63374400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:63366400-63376600	Weak transcription	Lung	lung
17	chr11:63366800-63375800	Weak transcription	Spleen	Spleen
18	chr11:63367000-63372800	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:63367000-63377000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:63367800-63377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63368800-63372600	Enhancers	Brain Anterior Caudate	brain
22	chr11:63369000-63374800	Enhancers	Brain Substantia Nigra	brain
23	chr11:63369400-63371800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:63369400-63372800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:63369800-63372600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:63370000-63376600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:63370600-63372200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:63370600-63372600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:63370800-63374600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:63370800-63375600	Weak transcription	HSMM	muscle
31	chr11:63370800-63376000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:63370800-63376200	Weak transcription	Small Intestine	intestine
33	chr11:63371000-63372600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:63371000-63374000	Weak transcription	Placenta	Placenta
35	chr11:63371000-63374000	Weak transcription	K562	blood
36	chr11:63371000-63375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63371000-63376200	Weak transcription	Stomach Mucosa	stomach
38	chr11:63371000-63376400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:63371000-63376600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:63371000-63376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:63371000-63376800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:63371000-63377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:63371000-63380400	Weak transcription	Aorta	Aorta
44	chr11:63371200-63372000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63371200-63372200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:63371200-63374200	Weak transcription	Right Ventricle	heart
47	chr11:63371200-63375600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:63371200-63375800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:63371200-63376000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:63371200-63376200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links