Variant report

Variant	rs2076188
Chromosome Location	chr6:11779499-11779500
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	CEBPB	chr6:11779328-11779702	K562	blood:	n/a	n/a
2	SMARCA4	chr6:11778736-11779660	K562	blood:	n/a	n/a
3	TAL1	chr6:11778585-11779647	K562	blood:	n/a	n/a
4	JUND	chr6:11778677-11779633	K562	blood:	n/a	chr6:11779339-11779351
5	MAZ	chr6:11778864-11779589	K562	blood:	n/a	n/a
6	ZMIZ1	chr6:11778809-11779534	K562	blood:	n/a	n/a
7	CEBPD	chr6:11778915-11779645	K562	blood:	n/a	n/a
8	BHLHE40	chr6:11778739-11779641	K562	blood:	n/a	n/a
9	TEAD4	chr6:11779023-11779627	K562	blood:	n/a	n/a
10	EP300	chr6:11778280-11779622	K562	blood:	n/a	chr6:11778687-11778697 chr6:11778371-11778381 chr6:11779514-11779522 chr6:11779596-11779610 chr6:11779601-11779615
11	CEBPD	chr6:11778805-11779712	K562	blood:	n/a	n/a
12	CCNT2	chr6:11778929-11779643	K562	blood:	n/a	n/a
13	UBTF	chr6:11778832-11779511	K562	blood:	n/a	n/a
14	SMARCB1	chr6:11778693-11779755	K562	blood:	n/a	n/a
15	TBL1XR1	chr6:11778124-11779619	K562	blood:	n/a	n/a
16	IRF1	chr6:11778872-11779693	K562	blood:	n/a	chr6:11779593-11779607 chr6:11779593-11779604 chr6:11779610-11779623 chr6:11779611-11779621 chr6:11779610-11779622 chr6:11779607-11779621
17	CEBPB	chr6:11779238-11779685	K562	blood:	n/a	n/a
18	TEAD4	chr6:11778136-11779728	K562	blood:	n/a	n/a
19	CUX1	chr6:11778181-11779691	K562	blood:	n/a	n/a
20	MYC	chr6:11778357-11779651	K562	blood:	n/a	n/a
21	RCOR1	chr6:11778614-11779650	K562	blood:	n/a	n/a
22	TBP	chr6:11778756-11779563	K562	blood:	n/a	n/a
23	ARID3A	chr6:11778777-11779702	K562	blood:	n/a	n/a
24	GATA1	chr6:11776378-11780136	K562	blood:	n/a	chr6:11777399-11777406 chr6:11777399-11777406 chr6:11779430-11779437 chr6:11779430-11779439 chr6:11779426-11779442 chr6:11777399-11777406 chr6:11779431-11779448 chr6:11776463-11776471
25	NR2F2	chr6:11778287-11779742	K562	blood:	n/a	n/a
26	RCOR1	chr6:11778630-11779913	K562	blood:	n/a	n/a
27	PML	chr6:11778694-11779642	K562	blood:	n/a	n/a

Variant related genes	Relation type
ADTRP	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11753177	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56204575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62397270	0.83[AMR][1000 genomes]

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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2076188	NOL7	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11771600-11779600	Weak transcription	Right Atrium	heart
2	chr6:11771800-11779600	Weak transcription	Lung	lung
3	chr6:11772200-11786000	Weak transcription	Gastric	stomach
4	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:11774200-11785600	Weak transcription	HMEC	breast
6	chr6:11777000-11779800	Active TSS	Colonic Mucosa	Colon
7	chr6:11777200-11779600	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:11777200-11785800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:11777600-11779800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:11777800-11779600	Flanking Active TSS	K562	blood
11	chr6:11777800-11780600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:11778400-11779600	Active TSS	Fetal Intestine Large	intestine
13	chr6:11778400-11780200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:11778600-11779600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr6:11778600-11786200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:11778800-11779600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:11778800-11779800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:11778800-11780000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:11778800-11780000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:11778800-11780000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:11778800-11780600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:11778800-11785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:11779000-11779800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:11779000-11780000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:11779000-11780000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:11779000-11780200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:11779000-11780400	Enhancers	Adipose Nuclei	Adipose
28	chr6:11779000-11780800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:11779000-11781000	Enhancers	Placenta	Placenta
30	chr6:11779200-11779600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:11779200-11779600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:11779200-11779800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:11779200-11779800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:11779200-11779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:11779200-11779800	Enhancers	Colon Smooth Muscle	Colon
36	chr6:11779200-11779800	Enhancers	Right Ventricle	heart
37	chr6:11779200-11780000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:11779200-11780000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:11779200-11780000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:11779200-11780000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:11779200-11780600	Enhancers	Brain Hippocampus Middle	brain
42	chr6:11779200-11780600	Enhancers	Pancreas	Pancrea
43	chr6:11779400-11779600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:11779400-11779800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:11779400-11780000	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:11779400-11780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:11779400-11780600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:11779400-11780800	Enhancers	Fetal Intestine Small	intestine
49	chr6:11779400-11781400	Enhancers	Stomach Mucosa	stomach

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