Variant report

Variant	rs1118268
Chromosome Location	chr6:38213091-38213092
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38210257..38213113-chr6:38213804..38216436,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10947723	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs726160	0.96[CEU][hapmap];0.87[TSI][hapmap]
rs873316	0.92[CEU][hapmap]
rs9462416	0.92[CEU][hapmap]

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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv969296	chr6:38210477-38213915	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1118268	KCNK17	cis	parietal	SCAN
rs1118268	SLC26A8	cis	cerebellum	SCAN
rs1118268	PRICKLE4	cis	parietal	SCAN
rs1118268	SRPK1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:38186600-38215200	Weak transcription	Aorta	Aorta
5	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:38204200-38215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:38205200-38216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:38208000-38221600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:38208000-38222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:38208000-38226400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:38208200-38215200	Weak transcription	Pancreas	Pancrea
15	chr6:38208200-38216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:38208200-38216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:38208200-38216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:38208200-38222200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:38208200-38226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:38208200-38236600	Weak transcription	Gastric	stomach
22	chr6:38208200-38255000	Weak transcription	Ovary	ovary
23	chr6:38208600-38222400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:38209600-38221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:38210800-38221000	Weak transcription	Primary B cells from cord blood	blood
28	chr6:38210800-38221200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:38211800-38221600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:38212000-38221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:38212600-38213400	Enhancers	Right Ventricle	heart
32	chr6:38212800-38213200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:38212800-38213200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:38213000-38213200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:38213000-38213400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:38213000-38213400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:38213000-38213400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:38213000-38213400	Enhancers	Lung	lung
39	chr6:38213000-38213400	Enhancers	Right Atrium	heart
40	chr6:38213000-38213600	Enhancers	Left Ventricle	heart
41	chr6:38213000-38216000	Weak transcription	Primary T cells from cord blood	blood
42	chr6:38213000-38220800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:38213000-38222000	Weak transcription	Brain Inferior Temporal Lobe	brain

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