Variant report

Variant	rs9444352
Chromosome Location	chr6:86257535-86257536
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86256251..86258999-chr6:86261062..86262660,2	K562	blood:
2	chr6:86252970..86257934-chr6:86299533..86304034,5	K562	blood:

Variant related genes	Relation type
ENSG00000135317	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1059306	0.83[CEU][hapmap]
rs1059307	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10944128	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10944129	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1173417	0.83[CEU][hapmap]
rs1173418	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs11752251	0.80[ASN][1000 genomes]
rs11752795	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12193777	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12199873	0.83[CEU][hapmap]
rs12203963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12206573	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12212560	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap]
rs2475790	0.83[CEU][hapmap]
rs2475792	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs2758840	0.83[CEU][hapmap]
rs2758842	0.91[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap]
rs2758843	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs2758845	0.91[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2758847	0.83[CEU][hapmap]
rs2758848	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];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2758849	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2783171	0.83[CEU][hapmap]
rs2842600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2842601	0.83[CEU][hapmap]
rs2842603	0.87[CEU][hapmap];0.83[CHB][hapmap]
rs2842605	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2842607	0.83[CEU][hapmap]
rs2842608	0.83[CEU][hapmap]
rs2842609	0.83[CEU][hapmap]
rs2842610	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2842611	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];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842612	0.82[CEU][hapmap]
rs2842613	0.83[CEU][hapmap]
rs2842614	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap]
rs2842615	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087978	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34980280	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4296866	0.85[GIH][hapmap]
rs4304137	0.83[CEU][hapmap]
rs4348284	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4351223	0.83[CEU][hapmap]
rs4431401	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4593336	0.84[CHD][hapmap]
rs4640862	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4707211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4707212	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6454471	0.83[CEU][hapmap]
rs6454472	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6909767	0.91[CEU][hapmap]
rs6922	0.83[CEU][hapmap]
rs6927475	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6935918	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs7452605	0.83[CEU][hapmap]
rs7742201	0.82[CEU][hapmap]
rs7742691	0.95[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap]
rs7766485	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7771612	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs7775864	0.87[CHB][hapmap]
rs911927	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs9294337	0.83[CEU][hapmap]
rs9342045	0.86[EUR][1000 genomes]
rs9344533	0.91[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap]
rs9344540	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9344542	0.87[CEU][hapmap];0.86[MEX][hapmap]
rs9351065	0.83[CEU][hapmap]
rs9353318	0.83[CEU][hapmap]
rs9353327	0.87[CEU][hapmap];0.86[MEX][hapmap]
rs9362230	0.83[CEU][hapmap]
rs9362232	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444348	0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9444351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9444354	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9450273	0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs9450282	0.84[CHD][hapmap]
rs9450284	0.82[CEU][hapmap]
rs9450285	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9450288	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9450292	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9450302	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs9450311	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
14	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv516516	chr6:86234835-86278691	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs9444352	SNHG5	cis	Esophagus Muscularis	GTEx
rs9444352	C6orf160	cis	lesional skin	skin_eQTL
rs9444352	C6orf160	cis	uninvolved skin	skin_eQTL
rs9444352	SNHG5	cis	Artery Aorta	GTEx
rs9444352	C6orf160	cis	multi-tissue	Pritchard
rs9444352	SNHG5	cis	Nerve Tibial	GTEx
rs9444352	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx
rs9444352	ZNF652	cis	Liver	GTEx
rs9444352	SNHG5	cis	multi-tissue	Pritchard
rs9444352	SNHG5	cis	Heart Left Ventricle	GTEx
rs9444352	C6orf160	cis	normal skin	skin_eQTL
rs9444352	KIAA1009	cis	cerebellum	SCAN
rs9444352	SNHG5	cis	Artery Tibial	GTEx
rs9444352	SNHG5	cis	lung	GTEx
rs9444352	SNHG5	cis	Muscle Skeletal	GTEx
rs9444352	SNHG5	cis	Thyroid	GTEx
rs9444352	SNHG5	cis	Stomach	GTEx
rs9444352	SNHG5	cis	Esophagus Mucosa	GTEx
rs9444352	SNHG5	cis	lymphoblastoid	seeQTL
rs9444352	SNHG5	cis	Whole Blood	GTEx
rs9444352	SNHG5	cis	Adipose Subcutaneous	GTEx
rs9444352	SNORD50B	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
2	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
3	chr6:86218000-86260200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:86218400-86266200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
6	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:86223200-86260200	Weak transcription	Lung	lung
8	chr6:86223400-86262800	Weak transcription	Stomach Mucosa	stomach
9	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:86223800-86262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:86224000-86279000	Weak transcription	NHLF	lung
12	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
13	chr6:86230000-86263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
15	chr6:86233400-86257800	Weak transcription	Ovary	ovary
16	chr6:86233400-86262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:86233600-86262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
19	chr6:86234000-86261000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:86236600-86279000	Weak transcription	HMEC	breast
21	chr6:86241400-86283600	Weak transcription	Fetal Kidney	kidney
22	chr6:86243200-86285200	Weak transcription	Psoas Muscle	Psoas
23	chr6:86243200-86286000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:86243400-86269600	Weak transcription	Brain Anterior Caudate	brain
25	chr6:86243400-86301400	Weak transcription	Thymus	Thymus
26	chr6:86243600-86285000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:86243600-86285800	Weak transcription	Fetal Brain Female	brain
28	chr6:86243600-86286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:86243800-86284800	Weak transcription	Brain Angular Gyrus	brain
30	chr6:86244000-86262800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:86244000-86265400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:86244200-86279000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:86244200-86286000	Weak transcription	Right Ventricle	heart
34	chr6:86244200-86289200	Weak transcription	Gastric	stomach
35	chr6:86244400-86281000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:86245800-86261000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:86246400-86279000	Weak transcription	NHEK	skin
38	chr6:86246600-86265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:86246600-86270800	Weak transcription	HUVEC	blood vessel
40	chr6:86246600-86274200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:86247600-86257600	Weak transcription	HepG2	liver
42	chr6:86247800-86262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:86248200-86271200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr6:86248400-86259400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:86248600-86259800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:86248600-86261200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:86249800-86258200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:86249800-86258400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:86249800-86258600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:86250000-86258000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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