Variant report

Variant	rs12549802
Chromosome Location	chr8:99022171-99022172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:
2	chr8:99014119..99017352-chr8:99021059..99024142,3	MCF-7	breast:
3	chr8:98880171..98881728-chr8:99021126..99023057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10098159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955141	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11785807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11990341	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13254737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13255477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13265127	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13439743	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16896517	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829645	1.00[JPT][hapmap]
rs2279120	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290467	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28522929	0.85[AMR][1000 genomes]
rs3088121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35417638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324498	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6987112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7004993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812	1.00[CHB][hapmap];1.00[JPT][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	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	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

No data

Chromatin state (count:77 , 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	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
16	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:99017200-99022800	Weak transcription	Right Ventricle	heart
19	chr8:99017400-99023400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr8:99018200-99022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:99018200-99024000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:99018400-99022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:99019200-99022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
28	chr8:99020000-99022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99020000-99022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:99020000-99022400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:99020000-99024600	Enhancers	HSMM	muscle
32	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
33	chr8:99020200-99022400	Weak transcription	Placenta	Placenta
34	chr8:99020200-99023200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:99020200-99024000	Enhancers	Osteobl	bone
36	chr8:99020400-99022400	Weak transcription	Fetal Intestine Small	intestine
37	chr8:99020400-99023400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:99020600-99023600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:99020800-99023200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:99021000-99022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:99021000-99022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:99021000-99028600	Weak transcription	Liver	Liver
45	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:99021200-99022200	Weak transcription	Fetal Lung	lung
47	chr8:99021200-99022600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:99021200-99024800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:99021200-99053600	Weak transcription	A549	lung

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