Variant report

Variant	rs17614684
Chromosome Location	chr6:38522630-38522631
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	chr6:38517461..38519604-chr6:38521981..38524241,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10484855	0.88[CEU][hapmap]
rs12525647	0.80[CEU][hapmap]
rs12529875	0.80[CEU][hapmap]
rs13191302	0.88[CEU][hapmap]
rs13196530	0.88[CEU][hapmap]
rs13196708	0.88[CEU][hapmap]
rs13198900	0.88[CEU][hapmap]
rs13203189	0.80[CEU][hapmap]
rs13203443	0.88[CEU][hapmap]
rs13204248	0.80[CEU][hapmap]
rs13214868	0.80[CEU][hapmap]
rs13217234	0.88[CEU][hapmap]
rs13219252	0.88[CEU][hapmap]
rs13219395	0.88[CEU][hapmap]
rs13219695	0.80[CEU][hapmap]
rs13219887	0.80[CEU][hapmap]
rs17543429	1.00[JPT][hapmap]
rs17544311	0.88[CEU][hapmap]
rs17590777	0.80[CEU][hapmap]
rs1781740	1.00[JPT][hapmap]
rs1781742	1.00[JPT][hapmap]
rs2395700	0.80[CEU][hapmap]
rs963720	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17614684	SRPK1	cis	parietal	SCAN
rs17614684	MAPK13	cis	parietal	SCAN
rs17614684	KIF6	cis	cerebellum	SCAN
rs17614684	TFEB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
2	chr6:38496600-38539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:38497000-38538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:38497000-38539400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:38510600-38546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:38511600-38522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:38513000-38539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:38514200-38539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:38515600-38535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:38516000-38538800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:38517800-38535000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:38519200-38538800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:38519200-38539400	Weak transcription	Left Ventricle	heart
14	chr6:38519600-38554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:38521400-38532000	Weak transcription	Primary B cells from cord blood	blood
16	chr6:38521800-38522800	Enhancers	Fetal Heart	heart
17	chr6:38521800-38523200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:38522000-38523000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:38522000-38523200	Enhancers	NH-A	brain
20	chr6:38522000-38524200	Enhancers	Fetal Brain Female	brain
21	chr6:38522000-38524800	Enhancers	Fetal Brain Male	brain
22	chr6:38522200-38522800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:38522200-38522800	Enhancers	NHDF-Ad	bronchial
24	chr6:38522200-38523000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:38522200-38523000	Enhancers	HSMMtube	muscle
26	chr6:38522200-38523200	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:38522200-38523800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:38522200-38524000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:38522400-38522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:38522400-38522800	Enhancers	Psoas Muscle	Psoas
31	chr6:38522400-38522800	Enhancers	Stomach Mucosa	stomach
32	chr6:38522400-38523000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:38522400-38523200	Enhancers	Colon Smooth Muscle	Colon
34	chr6:38522400-38523200	Enhancers	Osteobl	bone
35	chr6:38522400-38523400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:38522400-38523400	Enhancers	NHEK	skin
37	chr6:38522400-38523600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:38522400-38524000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:38522600-38522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:38522600-38522800	Enhancers	Ovary	ovary
41	chr6:38522600-38523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:38522600-38523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:38522600-38523200	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links