Variant report

Variant	rs831626
Chromosome Location	chr11:33746350-33746351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33745479-33746457	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr11:33746303-33746406	GM12878	blood:	n/a	n/a
3	RFX5	chr11:33745542-33746647	IMR90	lung:	n/a	n/a
4	SPI1	chr11:33746217-33746667	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:33745661-33746461	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:33745976-33746386	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:33742989-33746434	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:33742684-33746704	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:33742664-33746653	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:33742620-33746516	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:33746196-33746525	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
2	chr11:33737769..33742301-chr11:33743570..33746479,4	K562	blood:
3	chr11:33729551..33732086-chr11:33743744..33746634,3	K562	blood:
4	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
5	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
6	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
7	chr11:33745841..33747448-chr11:33762881..33764891,2	K562	blood:

No data

Variant related genes	Relation type
CD59	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1402956	0.85[ASN][1000 genomes]
rs1522088	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1632527	1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs16924726	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2231453	0.89[ASN][1000 genomes]
rs2686246	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs704700	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs831593	0.88[ASN][1000 genomes]
rs831597	0.81[CHB][hapmap]
rs831598	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs831601	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs831602	0.89[ASN][1000 genomes]
rs831619	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs831623	0.88[ASN][1000 genomes]
rs831628	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs831637	0.81[CHB][hapmap];0.90[JPT][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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831626	PDHX	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:33737600-33747000	Genic enhancers	HMEC	breast
3	chr11:33738600-33747400	Genic enhancers	NHEK	skin
4	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
6	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:33743200-33747200	Enhancers	Right Atrium	heart
10	chr11:33743400-33746400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
12	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
14	chr11:33743600-33746400	Enhancers	Small Intestine	intestine
15	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
16	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:33744000-33746400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:33744000-33746800	Enhancers	Left Ventricle	heart
20	chr11:33744000-33747200	Enhancers	Brain Substantia Nigra	brain
21	chr11:33744000-33747200	Enhancers	Fetal Heart	heart
22	chr11:33744000-33755400	Weak transcription	Brain Germinal Matrix	brain
23	chr11:33744000-33755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:33744200-33746400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:33744200-33746400	Enhancers	Fetal Intestine Large	intestine
27	chr11:33744200-33746400	Enhancers	Pancreas	Pancrea
28	chr11:33744200-33746600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:33744200-33746600	Enhancers	Fetal Muscle Leg	muscle
30	chr11:33744200-33746600	Enhancers	Psoas Muscle	Psoas
31	chr11:33744200-33747000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:33744200-33747200	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:33744200-33747200	Enhancers	Placenta	Placenta
34	chr11:33744200-33749600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:33744200-33755600	Weak transcription	Fetal Brain Female	brain
36	chr11:33744400-33746400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:33744400-33746400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:33744400-33746600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:33744400-33746600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:33744400-33746800	Enhancers	HepG2	liver
41	chr11:33744400-33747200	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:33744400-33747200	Enhancers	Brain Anterior Caudate	brain
43	chr11:33744400-33747200	Enhancers	Right Ventricle	heart
44	chr11:33744400-33747400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:33744400-33756200	Weak transcription	Primary T cells from cord blood	blood
46	chr11:33744600-33746600	Enhancers	Fetal Kidney	kidney
47	chr11:33744600-33746600	Enhancers	Ovary	ovary
48	chr11:33744600-33746600	Enhancers	HSMMtube	muscle
49	chr11:33744600-33746800	Enhancers	HUVEC	blood vessel
50	chr11:33744600-33747000	Enhancers	Fetal Lung	lung

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