Variant report

Variant	rs17646197
Chromosome Location	chr8:8924267-8924268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8923664..8926379-chr8:8930062..8932773,2	MCF-7	breast:
2	chr8:8923613..8925137-chr8:8925154..8926836,2	K562	blood:
3	chr8:8924114..8927396-chr8:9007431..9009009,3	MCF-7	breast:
4	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:
5	chr8:8922328..8927101-chr8:9005412..9009075,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	1.00[ASN][1000 genomes]
rs1036082	1.00[ASN][1000 genomes]
rs11774244	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11775788	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	0.80[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11781203	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11782835	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs13263364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17155334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17155367	1.00[ASN][1000 genomes]
rs17701980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2170335	1.00[ASN][1000 genomes]
rs28520356	1.00[ASN][1000 genomes]
rs2929466	1.00[ASN][1000 genomes]
rs34293316	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs55824072	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109025	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349323	1.00[ASN][1000 genomes]
rs56400435	1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs58802611	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	1.00[ASN][1000 genomes]
rs60551984	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62493173	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62493174	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62495491	1.00[ASN][1000 genomes]
rs62495539	1.00[ASN][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6601292	1.00[ASN][1000 genomes]
rs6981610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6987569	1.00[ASN][1000 genomes]
rs6996374	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	1.00[ASN][1000 genomes]
rs7826478	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[CHB][hapmap];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[CHB][hapmap];1.00[ASN][1000 genomes]
rs895253	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9329175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9329176	1.00[ASN][1000 genomes]
rs9987276	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17646197	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8915400-8928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:8922800-8924600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:8923400-8924400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:8923400-8924600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:8923400-8924600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:8923400-8924600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:8923400-8924600	Enhancers	Stomach Mucosa	stomach
9	chr8:8923400-8924600	Enhancers	Thymus	Thymus
10	chr8:8923400-8924600	Enhancers	HSMM	muscle
11	chr8:8923400-8925000	Enhancers	Fetal Lung	lung
12	chr8:8923400-8925000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:8923600-8924400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:8923600-8924600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:8923600-8924600	Enhancers	Fetal Thymus	thymus
16	chr8:8923600-8924600	Enhancers	Left Ventricle	heart
17	chr8:8923600-8924600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr8:8923600-8924600	Enhancers	Spleen	Spleen
19	chr8:8923800-8924800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:8923800-8927000	Weak transcription	NHDF-Ad	bronchial
21	chr8:8923800-8927200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:8923800-8927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:8923800-8927800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:8923800-8927800	Weak transcription	Ovary	ovary
25	chr8:8923800-8927800	Weak transcription	Osteobl	bone
26	chr8:8923800-8928200	Weak transcription	Aorta	Aorta
27	chr8:8923800-8929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:8923800-8932000	Weak transcription	A549	lung
29	chr8:8924000-8924400	Enhancers	Primary B cells from cord blood	blood
30	chr8:8924000-8924400	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:8924000-8924800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:8924000-8925000	Weak transcription	Liver	Liver
33	chr8:8924000-8925200	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:8924000-8925200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
36	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:8924000-8937800	Weak transcription	Lung	lung
38	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
39	chr8:8924200-8924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:8924200-8924600	Enhancers	Fetal Heart	heart
41	chr8:8924200-8924600	Active TSS	HSMMtube	muscle
42	chr8:8924200-8924800	Enhancers	GM12878-XiMat	blood
43	chr8:8924200-8926000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:8924200-8927400	Weak transcription	HUVEC	blood vessel
45	chr8:8924200-8928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:8924200-8928200	Weak transcription	Psoas Muscle	Psoas
47	chr8:8924200-8930400	Weak transcription	Fetal Intestine Small	intestine

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