Variant report

Variant	rs17481786
Chromosome Location	chr6:134216994-134216995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:134216860-134217010	HVMF	connective:	n/a	n/a
2	CTCF	chr6:134216960-134217110	AG04449	skin:	n/a	n/a
3	POLR2A	chr6:134216602-134217398	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr6:134216920-134217070	HVMF	connective:	n/a	n/a
5	FOXP2	chr6:134216860-134217033	PFSK-1	brain:	n/a	n/a
6	CTBP2	chr6:134216766-134217476	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr6:134216868-134217592	H1-hESC	embryonic stem cell:	n/a	chr6:134217023-134217034
8	CTCF	chr6:134216920-134217070	HA-sp	spinal cord:	n/a	n/a
9	SUZ12	chr6:134216738-134217730	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr6:134216788-134217112	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:134216940-134217090	HCM	heart:	n/a	n/a
12	POLR2A	chr6:134216889-134217153	Gliobla	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134211420..134213242-chr6:134215520..134217754,3	K562	blood:
2	chr6:134197571..134199761-chr6:134216243..134218641,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227954	TF binding region
ENSG00000227954	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11751744	1.00[ASN][1000 genomes]
rs11757968	1.00[ASN][1000 genomes]
rs1208227	1.00[ASN][1000 genomes]
rs1208228	1.00[ASN][1000 genomes]
rs1208234	1.00[ASN][1000 genomes]
rs1208235	1.00[ASN][1000 genomes]
rs1208237	1.00[ASN][1000 genomes]
rs1208239	1.00[ASN][1000 genomes]
rs1208242	1.00[ASN][1000 genomes]
rs1208244	1.00[ASN][1000 genomes]
rs1208246	1.00[ASN][1000 genomes]
rs1208247	1.00[ASN][1000 genomes]
rs1208251	1.00[ASN][1000 genomes]
rs1208252	1.00[ASN][1000 genomes]
rs1208253	1.00[ASN][1000 genomes]
rs1208260	1.00[ASN][1000 genomes]
rs1208265	1.00[ASN][1000 genomes]
rs1208267	1.00[ASN][1000 genomes]
rs1208268	1.00[ASN][1000 genomes]
rs1208282	1.00[ASN][1000 genomes]
rs1575446	1.00[ASN][1000 genomes]
rs1613895	1.00[ASN][1000 genomes]
rs1616030	1.00[ASN][1000 genomes]
rs1746011	1.00[ASN][1000 genomes]
rs1746012	1.00[ASN][1000 genomes]
rs1746015	1.00[ASN][1000 genomes]
rs1763937	1.00[ASN][1000 genomes]
rs1763941	1.00[ASN][1000 genomes]
rs1763944	1.00[ASN][1000 genomes]
rs1763945	1.00[ASN][1000 genomes]
rs2104261	1.00[ASN][1000 genomes]
rs229919	1.00[AFR][1000 genomes]
rs41286216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518518	1.00[ASN][1000 genomes]
rs4610586	1.00[ASN][1000 genomes]
rs6899948	1.00[ASN][1000 genomes]
rs6900251	1.00[ASN][1000 genomes]
rs6915061	1.00[ASN][1000 genomes]
rs6919282	1.00[ASN][1000 genomes]
rs6920657	1.00[ASN][1000 genomes]
rs716050	1.00[ASN][1000 genomes]
rs9321418	1.00[ASN][1000 genomes]
rs9321419	1.00[ASN][1000 genomes]
rs942130	1.00[ASN][1000 genomes]
rs942132	1.00[ASN][1000 genomes]

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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134212800-134217000	Active TSS	Right Atrium	heart
2	chr6:134214400-134217600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
3	chr6:134214600-134217200	Weak transcription	Gastric	stomach
4	chr6:134214600-134217400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
5	chr6:134214800-134217400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:134215400-134217600	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr6:134215800-134217400	Bivalent Enhancer	Fetal Heart	heart
8	chr6:134215800-134217800	Bivalent Enhancer	Small Intestine	intestine
9	chr6:134216000-134217600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr6:134216200-134217400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr6:134216200-134218000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:134216400-134217000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
13	chr6:134216400-134217200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr6:134216400-134217200	Active TSS	Ovary	ovary
15	chr6:134216600-134217000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr6:134216600-134217000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:134216600-134217000	Bivalent Enhancer	Brain Substantia Nigra	brain
18	chr6:134216600-134217200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:134216600-134217200	Bivalent/Poised TSS	NHDF-Ad	bronchial
20	chr6:134216600-134217400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:134216600-134217400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:134216600-134217400	Bivalent Enhancer	Fetal Brain Female	brain
23	chr6:134216600-134217400	Bivalent/Poised TSS	Osteobl	bone
24	chr6:134216600-134217600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr6:134216600-134217600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:134216600-134217600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:134216600-134217600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
28	chr6:134216600-134217600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr6:134216600-134217600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr6:134216600-134217800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
32	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:134216800-134217000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
36	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
37	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
38	chr6:134216800-134217000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
39	chr6:134216800-134217000	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr6:134216800-134217000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
42	chr6:134216800-134217000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr6:134216800-134217000	Flanking Active TSS	Right Ventricle	heart
44	chr6:134216800-134217000	Bivalent/Poised TSS	HSMMtube	muscle
45	chr6:134216800-134217000	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr6:134216800-134217200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:134216800-134217200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:134216800-134217200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr6:134216800-134217200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:134216800-134217200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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