Variant report

Variant	rs9910635
Chromosome Location	chr17:38081164-38081165
allele	A/G
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	HEY1	chr17:38080216-38082094	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:38080274-38081435	HepG2	liver:	n/a	n/a
3	SPI1	chr17:38080927-38081201	GM12878	blood:	n/a	chr17:38080935-38080948
4	MAX	chr17:38079938-38081235	HepG2	liver:	n/a	chr17:38080785-38080795
5	MYBL2	chr17:38079953-38081220	HepG2	liver:	n/a	n/a
6	SPI1	chr17:38080876-38081200	GM12891	blood:	n/a	chr17:38080935-38080948
7	HNF4G	chr17:38080298-38081226	HepG2	liver:	n/a	chr17:38081129-38081143
8	MAX	chr17:38080102-38081233	HepG2	liver:	n/a	chr17:38080785-38080795
9	NFIC	chr17:38080210-38081222	HepG2	liver:	n/a	chr17:38081190-38081218 chr17:38081200-38081217
10	CTCF	chr17:38081120-38081270	HBMEC	blood vessel:	n/a	chr17:38081253-38081262
11	FOSL2	chr17:38080210-38081380	HepG2	liver:	n/a	chr17:38080940-38080949
12	POLR2A	chr17:38081097-38081657	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:38081093-38081486	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:38080248-38081456	HepG2	liver:	n/a	n/a
15	FOXA2	chr17:38080008-38081316	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38080556..38082465-chr17:38135552..38137492,2	MCF-7	breast:
2	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
3	chr17:38080554..38082625-chr17:38096387..38098634,2	K562	blood:
4	chr17:38073834..38076577-chr17:38077829..38081795,4	MCF-7	breast:

Variant related genes	Relation type
ORMDL3	TF binding region
ENSG00000264968	TF binding region
ENSG00000073605	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000204913	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2227334	1.00[MEX][hapmap]
rs41365448	1.00[MEX][hapmap]
rs7501734	1.00[MEX][hapmap]
rs8082130	1.00[MEX][hapmap]
rs9890792	1.00[MEX][hapmap]
rs9894164	1.00[MEX][hapmap]
rs9898129	1.00[MEX][hapmap]
rs9903261	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
2	chr17:38060400-38081600	Weak transcription	Fetal Brain Male	brain
3	chr17:38073800-38081200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
5	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
6	chr17:38075000-38081200	Strong transcription	Brain Germinal Matrix	brain
7	chr17:38075000-38081400	Genic enhancers	Fetal Intestine Large	intestine
8	chr17:38075600-38081200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr17:38075600-38082200	Genic enhancers	Fetal Intestine Small	intestine
10	chr17:38076600-38082200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:38077200-38082800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:38079400-38082200	Weak transcription	HMEC	breast
13	chr17:38079800-38081200	Genic enhancers	Fetal Muscle Leg	muscle
14	chr17:38079800-38081600	Genic enhancers	Rectal Mucosa Donor 29	rectum
15	chr17:38079800-38082200	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr17:38080000-38081400	Genic enhancers	Thymus	Thymus
17	chr17:38080000-38081600	Weak transcription	Fetal Kidney	kidney
18	chr17:38080000-38082600	Flanking Active TSS	Liver	Liver
19	chr17:38080000-38083000	Weak transcription	Ovary	ovary
20	chr17:38080200-38081400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:38080200-38081400	Enhancers	HUVEC	blood vessel
22	chr17:38080200-38081600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:38080200-38081600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:38080200-38081600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:38080200-38081600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:38080200-38081600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:38080200-38081600	Genic enhancers	Esophagus	oesophagus
28	chr17:38080200-38081600	Genic enhancers	Pancreas	Pancrea
29	chr17:38080200-38082400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:38080200-38082400	Genic enhancers	Fetal Stomach	stomach
31	chr17:38080200-38082400	Enhancers	NH-A	brain
32	chr17:38080200-38082600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:38080200-38082800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr17:38080400-38081200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr17:38080400-38081200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:38080400-38081200	Weak transcription	K562	blood
37	chr17:38080400-38081400	Weak transcription	Brain Substantia Nigra	brain
38	chr17:38080400-38081400	Enhancers	Colonic Mucosa	Colon
39	chr17:38080400-38081400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr17:38080400-38081600	Genic enhancers	Spleen	Spleen
41	chr17:38080400-38081800	Genic enhancers	Dnd41	blood
42	chr17:38080400-38082400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:38080400-38082400	Enhancers	NHDF-Ad	bronchial
44	chr17:38080400-38082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr17:38080400-38082600	Weak transcription	HSMMtube	muscle
46	chr17:38080600-38081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr17:38080600-38081200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
48	chr17:38080600-38081200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr17:38080600-38081200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:38080600-38081200	Enhancers	Adipose Nuclei	Adipose

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