Variant report

Variant	rs11781203
Chromosome Location	chr8:8875128-8875129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:8874803-8879040	K562	blood:	n/a	n/a
2	STAT3	chr8:8875089-8875289	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:8875032-8875499	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8873907..8877820-chr8:8877960..8882381,6	K562	blood:
2	chr8:8871151..8874169-chr8:8874496..8877861,4	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036082	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774244	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11775788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779660	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs13250781	1.00[ASN][1000 genomes]
rs13263364	1.00[CHB][hapmap]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155334	1.00[CHB][hapmap]
rs17646197	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17700611	1.00[ASN][1000 genomes]
rs17701980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510464	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28520356	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572014	1.00[ASN][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs55824072	1.00[ASN][1000 genomes]
rs56109025	1.00[ASN][1000 genomes]
rs56349323	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56400435	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs62495491	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495539	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6981610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987569	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996374	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998594	0.86[EUR][1000 genomes]
rs7001187	1.00[ASN][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826478	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828944	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830266	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843024	1.00[ASN][1000 genomes]
rs7843154	1.00[ASN][1000 genomes]
rs7843369	1.00[ASN][1000 genomes]
rs7843789	1.00[ASN][1000 genomes]
rs7846007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895253	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9329176	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987276	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11781203	MFHAS1	cis	cerebellum	SCAN
rs11781203	CLDN23	cis	multi-tissue	Pritchard
rs11781203	DEFB136	cis	parietal	SCAN
rs11781203	ERI1	cis	parietal	SCAN
rs11781203	CTSB	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
4	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
7	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
8	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
9	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
10	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:8861800-8892200	Weak transcription	Ovary	ovary
19	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
20	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
22	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
26	chr8:8869000-8880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:8869200-8876400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:8870000-8879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:8870200-8883600	Weak transcription	Stomach Mucosa	stomach
30	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:8871200-8876400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:8871200-8876600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
35	chr8:8871800-8877200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:8871800-8887200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:8872000-8875200	Weak transcription	Osteobl	bone
39	chr8:8872000-8876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:8872000-8878600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:8872000-8880200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:8872000-8881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:8872000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:8872200-8876200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:8872400-8887200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:8872600-8875200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:8872600-8875200	Weak transcription	NHLF	lung
48	chr8:8872600-8881000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:8872800-8876000	Weak transcription	A549	lung
50	chr8:8872800-8876600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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