Variant report

Variant	rs2018127
Chromosome Location	chr15:40635504-40635505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:40635062-40637277	IMR90	lung:	n/a	n/a
2	CTCF	chr15:40635143-40637481	SK-N-SH	brain:	n/a	chr15:40636926-40636947 chr15:40636924-40636942 chr15:40637299-40637312 chr15:40637257-40637266
3	POLR2A	chr15:40635262-40636876	HUVEC	blood vessel:	n/a	n/a
4	RFX5	chr15:40635302-40637369	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr15:40635443-40637198	U87	brain:	n/a	n/a
6	POLR2A	chr15:40635417-40636612	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr15:40635067-40637109	IMR90	lung:	n/a	n/a
8	RCOR1	chr15:40634368-40637165	IMR90	lung:	n/a	n/a
9	POLR2A	chr15:40635061-40637089	U87	brain:	n/a	n/a
10	JUND	chr15:40635189-40636281	SK-N-SH	brain:	n/a	chr15:40635888-40635899 chr15:40635890-40635901 chr15:40635772-40635786
11	FOS	chr15:40634672-40636307	HUVEC	blood vessel:	n/a	chr15:40635890-40635901 chr15:40635888-40635899 chr15:40635772-40635786
12	RFX5	chr15:40634386-40637249	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40635356..40637920-chr15:40639112..40641460,3	K562	blood:
2	chr15:40631655..40634188-chr15:40635440..40637021,2	K562	blood:

Variant related genes	Relation type
C15orf52	TF binding region
ENSG00000188549	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1048163	1.00[JPT][hapmap]
rs11636097	1.00[JPT][hapmap]
rs11636147	1.00[JPT][hapmap]
rs11638662	1.00[JPT][hapmap]
rs17733008	1.00[JPT][hapmap]
rs2289327	1.00[JPT][hapmap]
rs3743143	1.00[MEX][hapmap]
rs8036383	0.87[EUR][1000 genomes]
rs8040419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs900054	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40621000-40637600	Enhancers	Fetal Heart	heart
2	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
3	chr15:40629400-40637200	Enhancers	Fetal Lung	lung
4	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:40632800-40637000	Weak transcription	Fetal Thymus	thymus
6	chr15:40633000-40636400	Enhancers	Right Atrium	heart
7	chr15:40633000-40637200	Enhancers	Fetal Muscle Leg	muscle
8	chr15:40633000-40637400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:40633000-40637400	Enhancers	NHDF-Ad	bronchial
10	chr15:40633000-40638800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:40633000-40640600	Enhancers	Fetal Intestine Small	intestine
12	chr15:40633200-40635800	Enhancers	Left Ventricle	heart
13	chr15:40633200-40637400	Enhancers	Right Ventricle	heart
14	chr15:40633200-40637400	Enhancers	HMEC	breast
15	chr15:40633200-40637400	Enhancers	NHEK	skin
16	chr15:40633200-40637400	Enhancers	NHLF	lung
17	chr15:40633200-40637600	Enhancers	HUVEC	blood vessel
18	chr15:40633200-40639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:40633200-40641600	Enhancers	Esophagus	oesophagus
20	chr15:40633400-40635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:40633400-40636600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:40633400-40636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:40633400-40637000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr15:40633400-40637000	Weak transcription	Small Intestine	intestine
25	chr15:40633400-40637200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:40633400-40637800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:40633600-40635800	Enhancers	Stomach Smooth Muscle	stomach
28	chr15:40633600-40636600	Weak transcription	Ovary	ovary
29	chr15:40633600-40636600	Weak transcription	Pancreas	Pancrea
30	chr15:40633600-40637200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:40633600-40637200	Enhancers	Osteobl	bone
32	chr15:40633600-40642800	Enhancers	Stomach Mucosa	stomach
33	chr15:40633600-40644800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:40633800-40635800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:40633800-40636000	Weak transcription	Fetal Brain Male	brain
37	chr15:40633800-40636200	Weak transcription	Spleen	Spleen
38	chr15:40633800-40636600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:40633800-40636800	Weak transcription	Brain Anterior Caudate	brain
40	chr15:40633800-40637400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr15:40633800-40638200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:40633800-40638600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:40633800-40638600	Weak transcription	Hela-S3	cervix
44	chr15:40634000-40636000	Weak transcription	HSMMtube	muscle
45	chr15:40634000-40636400	Weak transcription	Brain Substantia Nigra	brain
46	chr15:40634000-40636400	Weak transcription	Fetal Brain Female	brain
47	chr15:40634000-40638600	Weak transcription	HSMM	muscle
48	chr15:40634200-40637000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr15:40634200-40637600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:40634400-40635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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