Variant report

Variant	rs9470068
Chromosome Location	chr6:11779617-11779618
allele	A/C
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	CEBPD	chr6:11778915-11779645	K562	blood:	n/a	n/a
6	BHLHE40	chr6:11778739-11779641	K562	blood:	n/a	n/a
7	TEAD4	chr6:11779023-11779627	K562	blood:	n/a	n/a
8	EP300	chr6:11778280-11779622	K562	blood:	n/a	chr6:11778687-11778697 chr6:11778371-11778381 chr6:11779514-11779522 chr6:11779596-11779610 chr6:11779601-11779615
9	CEBPD	chr6:11778805-11779712	K562	blood:	n/a	n/a
10	CCNT2	chr6:11778929-11779643	K562	blood:	n/a	n/a
11	SMARCB1	chr6:11778693-11779755	K562	blood:	n/a	n/a
12	TBL1XR1	chr6:11778124-11779619	K562	blood:	n/a	n/a
13	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
14	CEBPB	chr6:11779238-11779685	K562	blood:	n/a	n/a
15	TEAD4	chr6:11778136-11779728	K562	blood:	n/a	n/a
16	CUX1	chr6:11778181-11779691	K562	blood:	n/a	n/a
17	MYC	chr6:11778357-11779651	K562	blood:	n/a	n/a
18	RCOR1	chr6:11778614-11779650	K562	blood:	n/a	n/a
19	ARID3A	chr6:11778777-11779702	K562	blood:	n/a	n/a
20	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
21	NR2F2	chr6:11778287-11779742	K562	blood:	n/a	n/a
22	RCOR1	chr6:11778630-11779913	K562	blood:	n/a	n/a
23	PML	chr6:11778694-11779642	K562	blood:	n/a	n/a

Variant related genes	Relation type
ADTRP	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1018383	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966074	0.93[CEU][hapmap];0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs2056952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235384	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60675252	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457838	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457840	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457841	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913633	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749712	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763031	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

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

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