Variant report

Variant	rs6939774
Chromosome Location	chr6:119567035-119567036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119558682..119563599-chr6:119563682..119567581,7	K562	blood:
2	chr6:119493505..119495006-chr6:119566194..119568932,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1005506	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs10872174	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12529667	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12530171	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1295380	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1555684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171843	0.89[CEU][hapmap]
rs195047	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs195049	0.85[ASN][1000 genomes]
rs195053	0.83[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs195054	0.83[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.97[LWK][hapmap];0.85[MKK][hapmap];0.94[YRI][hapmap];0.82[ASN][1000 genomes]
rs195055	0.82[ASN][1000 genomes]
rs195057	0.92[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.97[LWK][hapmap];0.85[MKK][hapmap];0.94[YRI][hapmap];0.81[ASN][1000 genomes]
rs195060	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs195063	1.00[CEU][hapmap]
rs195067	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs195070	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs195077	0.92[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap]
rs195081	1.00[CEU][hapmap]
rs195093	0.85[ASN][1000 genomes]
rs1980460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2104360	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2142885	0.81[CHB][hapmap]
rs2142891	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295203	0.81[CHB][hapmap]
rs2299877	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299884	0.81[CHB][hapmap]
rs2357162	0.85[ASN][1000 genomes]
rs3778110	0.93[CHB][hapmap]
rs3822997	0.83[ASN][1000 genomes]
rs3822998	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945632	0.97[ASN][1000 genomes]
rs6569058	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569059	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes]
rs6569060	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs6569061	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs6569062	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66524742	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6903155	0.81[ASN][1000 genomes]
rs6903680	0.80[CHB][hapmap]
rs6932066	0.85[ASN][1000 genomes]
rs6933961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7357047	0.85[ASN][1000 genomes]
rs7761203	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7775421	0.81[CHB][hapmap]
rs9320682	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9320683	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9374786	0.81[CHB][hapmap]
rs9374789	0.81[CHB][hapmap]
rs9398506	0.93[CHB][hapmap]
rs9489624	0.83[ASN][1000 genomes]
rs9489637	0.85[ASN][1000 genomes]
rs9489650	0.85[ASN][1000 genomes]
rs980818	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs998194	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6939774	ZMYND10	trans	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119558800-119567400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:119558800-119567400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:119558800-119567400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:119558800-119568000	Weak transcription	Placenta	Placenta
6	chr6:119558800-119568200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:119558800-119568600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:119558800-119569200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:119558800-119569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:119558800-119571800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:119558800-119572000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:119558800-119572200	Weak transcription	Right Ventricle	heart
13	chr6:119558800-119572800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:119558800-119573600	Weak transcription	Lung	lung
15	chr6:119558800-119575200	Weak transcription	Esophagus	oesophagus
16	chr6:119558800-119576400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:119558800-119576400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:119558800-119576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:119558800-119576400	Weak transcription	Dnd41	blood
20	chr6:119558800-119576600	Weak transcription	Spleen	Spleen
21	chr6:119558800-119576800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:119558800-119577600	Weak transcription	Aorta	Aorta
23	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:119558800-119578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:119558800-119578600	Weak transcription	Fetal Thymus	thymus
27	chr6:119558800-119582200	Weak transcription	Colonic Mucosa	Colon
28	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
31	chr6:119558800-119602000	Weak transcription	Gastric	stomach
32	chr6:119562200-119579400	Weak transcription	NHEK	skin
33	chr6:119562600-119567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:119562600-119567400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:119562600-119567400	Weak transcription	Brain Anterior Caudate	brain
36	chr6:119562600-119568400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:119562600-119568600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:119562600-119580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:119562600-119580000	Weak transcription	Small Intestine	intestine
40	chr6:119562800-119567400	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:119562800-119568600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:119562800-119582200	Weak transcription	Pancreas	Pancrea
43	chr6:119562800-119583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
45	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:119563000-119568400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:119563400-119567400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:119563400-119567800	Weak transcription	NHDF-Ad	bronchial
49	chr6:119563400-119570400	Weak transcription	Fetal Intestine Small	intestine
50	chr6:119563400-119571200	Weak transcription	Fetal Heart	heart

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