Variant report

Variant	rs17631052
Chromosome Location	chr8:8663787-8663788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8663729..8665555-chr8:8666802..8669235,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10090152	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10093872	0.88[CEU][hapmap]
rs10100066	0.89[ASN][1000 genomes]
rs10103163	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10103282	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10110711	0.89[ASN][1000 genomes]
rs11774860	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11775486	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777091	0.86[AFR][1000 genomes]
rs11777812	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778326	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778330	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781430	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11786455	0.86[AFR][1000 genomes]
rs11906	0.80[CEU][hapmap];0.88[GIH][hapmap]
rs11985640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154756	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17154758	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17629935	0.86[AFR][1000 genomes]
rs17630714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17631022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698256	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048420	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2427	0.82[CEU][hapmap];0.88[GIH][hapmap]
rs34722673	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35432123	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789857	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827810	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657655	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55961293	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56100346	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73517985	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73519953	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831224	0.84[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs964771	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs964772	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs964773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17631052	MFHAS1	cis	cerebellum	SCAN
rs17631052	TDH	cis	cerebellum	SCAN
rs17631052	MAP7D2	trans	parietal	SCAN
rs17631052	MFHAS1	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8649200-8666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:8649400-8663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:8653800-8674800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:8654000-8666800	Weak transcription	NHDF-Ad	bronchial
6	chr8:8654000-8666800	Weak transcription	NHLF	lung
7	chr8:8654000-8671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:8655200-8663800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:8655200-8666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:8655200-8680600	Weak transcription	Colonic Mucosa	Colon
11	chr8:8655400-8666800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:8655600-8673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:8655600-8685600	Weak transcription	Fetal Brain Female	brain
14	chr8:8655800-8666200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:8655800-8666800	Weak transcription	Fetal Brain Male	brain
16	chr8:8655800-8669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:8655800-8669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:8655800-8669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:8655800-8669200	Weak transcription	Thymus	Thymus
20	chr8:8656000-8669600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:8656200-8667000	Weak transcription	Placenta	Placenta
22	chr8:8656200-8669000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:8656200-8669000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:8656400-8663800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:8658000-8664800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:8658200-8666800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:8658200-8668800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:8658200-8669000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:8658400-8663800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:8658400-8666400	Weak transcription	Fetal Stomach	stomach
31	chr8:8658400-8666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:8658400-8669200	Weak transcription	Fetal Intestine Large	intestine
33	chr8:8658400-8675200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:8659000-8665600	Weak transcription	Aorta	Aorta
36	chr8:8659200-8666200	Weak transcription	Fetal Kidney	kidney
37	chr8:8659400-8666800	Weak transcription	Gastric	stomach
38	chr8:8659400-8666800	Weak transcription	Ovary	ovary
39	chr8:8659400-8671600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:8660200-8684400	Weak transcription	HSMMtube	muscle
41	chr8:8660600-8669000	Weak transcription	Dnd41	blood
42	chr8:8661400-8664000	Enhancers	Colon Smooth Muscle	Colon
43	chr8:8661400-8664400	Enhancers	Left Ventricle	heart
44	chr8:8661800-8663800	Enhancers	Brain Substantia Nigra	brain
45	chr8:8662000-8663800	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:8662000-8664000	Enhancers	Stomach Mucosa	stomach
47	chr8:8662000-8664600	Enhancers	Right Ventricle	heart
48	chr8:8662200-8664800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:8662200-8668200	Weak transcription	Primary T cells from cord blood	blood
50	chr8:8662400-8666400	Weak transcription	Right Atrium	heart

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