Variant report

Variant	rs9484868
Chromosome Location	chr6:144663185-144663186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:144663140-144663710	A549	lung:	n/a	n/a
2	MYBL2	chr6:144662530-144663799	HepG2	liver:	n/a	n/a
3	POU2F2	chr6:144663116-144663317	GM12878	blood:	n/a	n/a
4	IKZF1	chr6:144663025-144663464	GM12878	blood:	n/a	n/a
5	FOXA2	chr6:144661363-144663185	HepG2	liver:	n/a	n/a
6	BATF	chr6:144662981-144663556	GM12878	blood:	n/a	n/a
7	POU2F2	chr6:144662983-144663301	GM12891	blood:	n/a	n/a
8	EBF1	chr6:144663073-144663372	GM12878	blood:	n/a	n/a
9	BCLAF1	chr6:144662895-144663412	GM12878	blood:	n/a	chr6:144662896-144662905
10	RUNX3	chr6:144662943-144663677	GM12878	blood:	n/a	n/a
11	POU2F2	chr6:144662974-144663399	GM12891	blood:	n/a	n/a
12	NFIC	chr6:144663009-144663463	GM12878	blood:	n/a	n/a
13	BATF	chr6:144662991-144663564	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:144662990-144663612	GM12878	blood:	n/a	n/a
15	NFIC	chr6:144662970-144663651	GM12878	blood:	n/a	n/a
16	SP1	chr6:144663160-144663693	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144662894..144665141-chr6:144667747..144670464,2	K562	blood:
2	chr6:144658220..144661109-chr6:144661857..144663367,2	K562	blood:
3	chr6:144651662..144654238-chr6:144661982..144664850,2	MCF-7	breast:

No data

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11965745	1.00[ASN][1000 genomes]
rs11970041	0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs12178630	1.00[AMR][1000 genomes]
rs17073670	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2223428	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2328570	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28737224	0.91[AMR][1000 genomes]
rs4546509	1.00[ASN][1000 genomes]
rs57580585	1.00[ASN][1000 genomes]
rs59893699	1.00[ASN][1000 genomes]
rs6570620	1.00[AMR][1000 genomes]
rs6570621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6902637	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6910059	1.00[ASN][1000 genomes]
rs6932679	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936691	1.00[ASN][1000 genomes]
rs7748278	1.00[ASN][1000 genomes]
rs7755700	1.00[ASN][1000 genomes]
rs7768531	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs9321971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321973	1.00[ASN][1000 genomes]
rs9484866	1.00[AMR][1000 genomes]
rs9484869	0.89[YRI][hapmap];0.91[AMR][1000 genomes]
rs9484870	0.91[AMR][1000 genomes]
rs9484871	1.00[ASN][1000 genomes]
rs9484873	1.00[ASN][1000 genomes]
rs9496929	1.00[AMR][1000 genomes]
rs9496933	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496934	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496943	0.82[AFR][1000 genomes]
rs9496945	0.86[AFR][1000 genomes]
rs9496946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496947	0.91[AMR][1000 genomes]
rs9496951	1.00[ASN][1000 genomes]
rs9496952	1.00[ASN][1000 genomes]
rs9496953	1.00[ASN][1000 genomes]
rs9496954	1.00[ASN][1000 genomes]
rs9496961	1.00[ASN][1000 genomes]
rs9496965	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
3	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:144656000-144664200	Weak transcription	Fetal Kidney	kidney
7	chr6:144656000-144665200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:144656000-144665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:144656600-144664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:144657200-144664000	Enhancers	Primary B cells from cord blood	blood
14	chr6:144657200-144664800	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:144657200-144665200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:144657400-144665000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:144657800-144666400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:144658200-144664400	Weak transcription	Fetal Intestine Large	intestine
19	chr6:144658200-144668200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:144658400-144664000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:144658400-144664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:144658400-144670400	Weak transcription	Fetal Lung	lung
23	chr6:144658600-144664000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:144658600-144664000	Weak transcription	Fetal Thymus	thymus
25	chr6:144659200-144664800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:144659600-144665200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:144659800-144664800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:144660000-144663600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:144660000-144665400	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:144660000-144667800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:144660200-144664600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:144660200-144665000	Enhancers	NHEK	skin
33	chr6:144660200-144665200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:144660200-144667600	Weak transcription	Placenta	Placenta
35	chr6:144660400-144663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:144660400-144664000	Weak transcription	Thymus	Thymus
37	chr6:144660400-144668200	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:144660400-144670800	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:144660800-144665400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:144661000-144663400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:144661000-144663600	Enhancers	Hela-S3	cervix
42	chr6:144661000-144663600	Enhancers	HMEC	breast
43	chr6:144661000-144666600	Enhancers	Stomach Mucosa	stomach
44	chr6:144661200-144663400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:144661200-144663400	Enhancers	NHDF-Ad	bronchial
46	chr6:144661200-144663600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:144661200-144663600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:144661200-144664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:144661200-144664200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:144661200-144665200	Enhancers	Adipose Nuclei	Adipose

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