Variant report

Variant	rs11775531
Chromosome Location	chr8:99019930-99019931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11779647	0.88[MEX][hapmap]
rs11998201	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13253861	0.83[EUR][1000 genomes]
rs13255477	0.87[ASW][hapmap];0.93[YRI][hapmap]
rs13262105	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13262119	0.80[EUR][1000 genomes]
rs2877453	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55698139	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6987112	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7006113	0.96[CEU][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7835905	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812	0.93[YRI][hapmap]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11775531	RGS22	cis	cerebellum	SCAN
rs11775531	LAPTM4B	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
6	chr8:99012000-99032000	Weak transcription	Gastric	stomach
7	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:99014000-99022400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99014600-99020000	Weak transcription	HSMM	muscle
12	chr8:99014600-99021200	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:99014600-99021400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:99015000-99020000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:99015200-99022000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:99015400-99021200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
22	chr8:99016400-99021400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:99016400-99021400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:99016600-99020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:99016600-99021400	Enhancers	Brain Angular Gyrus	brain
26	chr8:99016600-99021400	Enhancers	Brain Anterior Caudate	brain
27	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:99017000-99020200	Weak transcription	Osteobl	bone
29	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:99017200-99020000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:99017200-99022800	Weak transcription	Right Ventricle	heart
32	chr8:99017400-99023400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:99017800-99020200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr8:99018200-99022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:99018200-99024000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:99018400-99020000	Weak transcription	Ovary	ovary
38	chr8:99018400-99020200	Weak transcription	NHLF	lung
39	chr8:99018400-99020400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:99018400-99022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:99018600-99020400	Strong transcription	Fetal Intestine Small	intestine
42	chr8:99018600-99021400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:99018800-99021400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:99019000-99020800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:99019000-99021000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:99019200-99020000	Enhancers	Right Atrium	heart
48	chr8:99019200-99022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:99019400-99020000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:99019400-99020000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links