Variant report

Variant	rs11676156
Chromosome Location	chr2:234259001-234259002
allele	G/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	SP1	chr2:234258993-234259804	A549	lung:	n/a	n/a
2	SP1	chr2:234258928-234260358	HCT-116	colon:	n/a	n/a
3	FOSL1	chr2:234258935-234260437	HCT-116	colon:	n/a	chr2:234259556-234259567 chr2:234259569-234259578 chr2:234259568-234259579 chr2:234259568-234259580
4	JUND	chr2:234258937-234260490	HCT-116	colon:	n/a	chr2:234259569-234259578 chr2:234259568-234259579 chr2:234259568-234259580 chr2:234259556-234259567
5	MAX	chr2:234258939-234259823	NB4	blood:	n/a	chr2:234259570-234259579
6	BCL3	chr2:234258905-234259767	A549	lung:	n/a	chr2:234259570-234259579
7	MAX	chr2:234258946-234259954	A549	lung:	n/a	chr2:234259570-234259579

No.	Distal block	Cell Line	Cell type
1	chr2:234257933..234260937-chr2:234261415..234264229,3	K562	blood:
2	chr2:234258654..234260896-chr2:234262665..234264444,3	MCF-7	breast:
3	chr2:234243954..234247958-chr2:234256896..234259564,3	MCF-7	breast:
4	chr2:234196279..234198158-chr2:234258001..234260532,2	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000243637	TF binding region
ENSG00000251791	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000243637	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046974	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10803624	0.95[ASN][1000 genomes]
rs10803625	0.82[ASN][1000 genomes]
rs11679046	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681192	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682579	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002340	0.83[ASN][1000 genomes]
rs13003198	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2879924	0.95[ASN][1000 genomes]
rs2879925	0.94[ASN][1000 genomes]
rs34595600	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34891595	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35480652	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828305	0.95[ASN][1000 genomes]
rs67399374	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7423426	0.95[ASN][1000 genomes]
rs880114	0.95[ASN][1000 genomes]
rs880116	0.95[ASN][1000 genomes]

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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11676156	DGKD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234255000-234260000	Enhancers	Liver	Liver
2	chr2:234255800-234262400	Weak transcription	Right Atrium	heart
3	chr2:234256200-234260800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:234256400-234260400	Enhancers	Fetal Intestine Small	intestine
5	chr2:234256400-234262400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:234256600-234259800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:234256600-234261400	Enhancers	Primary B cells from cord blood	blood
8	chr2:234256800-234262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:234257000-234259200	Enhancers	Fetal Muscle Leg	muscle
10	chr2:234257000-234262200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:234257200-234259400	Enhancers	Fetal Thymus	thymus
12	chr2:234257200-234260000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:234257200-234260400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:234257400-234260400	Enhancers	Fetal Intestine Large	intestine
15	chr2:234257600-234260000	Enhancers	Stomach Mucosa	stomach
16	chr2:234257600-234260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:234257800-234259800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:234257800-234260000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:234257800-234260400	Enhancers	K562	blood
20	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:234258000-234259200	Enhancers	Hela-S3	cervix
22	chr2:234258000-234259400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:234258000-234260200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:234258000-234260400	Enhancers	HSMM	muscle
25	chr2:234258000-234261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:234258200-234259200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:234258200-234259400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234258200-234259600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:234258200-234259600	Enhancers	Colonic Mucosa	Colon
30	chr2:234258200-234259800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:234258200-234260000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:234258200-234260000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:234258200-234260200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:234258200-234260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:234258200-234261200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:234258200-234261800	Weak transcription	Esophagus	oesophagus
37	chr2:234258200-234261800	Weak transcription	Lung	lung
38	chr2:234258200-234262000	Weak transcription	Right Ventricle	heart
39	chr2:234258200-234262600	Weak transcription	Psoas Muscle	Psoas
40	chr2:234258400-234259200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:234258400-234259200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:234258400-234259200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:234258400-234259200	Weak transcription	NHLF	lung
44	chr2:234258400-234259400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:234258400-234259400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:234258400-234259400	Weak transcription	HSMMtube	muscle
47	chr2:234258400-234259600	Enhancers	GM12878-XiMat	blood
48	chr2:234258400-234260400	Enhancers	Brain Anterior Caudate	brain
49	chr2:234258400-234261000	Enhancers	NHEK	skin
50	chr2:234258400-234261800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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