Variant report

Variant	rs29266
Chromosome Location	chr6:29575279-29575280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29575184-29575395	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29572757..29580903-chr6:29593317..29599166,10	K562	blood:
2	chr6:29574743..29577585-chr6:29585500..29587353,2	K562	blood:
3	chr6:29564780..29575712-chr6:29592511..29597522,14	K562	blood:
4	chr6:29564159..29568485-chr6:29574849..29577852,4	K562	blood:
5	chr6:29564159..29568485-chr6:29574849..29577852,3	K562	blood:

No data

Variant related genes	Relation type
GABBR1	TF binding region
ENSG00000204681	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16895101	0.86[ASN][1000 genomes]
rs2057010	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2058325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058326	0.91[ASN][1000 genomes]
rs28359971	0.93[ASN][1000 genomes]
rs28359972	0.95[ASN][1000 genomes]
rs28749524	0.95[ASN][1000 genomes]
rs29219	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3025628	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3025642	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs362515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55701059	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971964	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56020557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56045105	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56106029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142919	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56155438	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56393713	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62392941	0.95[ASN][1000 genomes]
rs62392942	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62392943	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62392944	0.92[EUR][1000 genomes]
rs62406580	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62406582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406583	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62406584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv528285	chr6:29566842-29588146	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv462671	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv601229	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv526617	chr6:29571545-29576393	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29566400-29595200	Weak transcription	Right Atrium	heart
2	chr6:29566600-29587000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:29566800-29584600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:29566800-29590000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr6:29566800-29590600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:29567000-29589800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:29567200-29589400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:29567200-29589800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:29567600-29583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:29567600-29592400	Strong transcription	Fetal Stomach	stomach
11	chr6:29567600-29595400	Weak transcription	A549	lung
12	chr6:29567800-29582800	Strong transcription	Ovary	ovary
13	chr6:29567800-29584600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:29568400-29582600	Strong transcription	HMEC	breast
15	chr6:29568400-29583600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:29568600-29595200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:29568800-29578000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:29568800-29583200	Strong transcription	NHEK	skin
19	chr6:29569000-29582600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr6:29569000-29582800	Strong transcription	Osteobl	bone
21	chr6:29569000-29584600	Strong transcription	Spleen	Spleen
22	chr6:29569000-29592400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:29569200-29582800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:29569200-29592200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:29569400-29581600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:29569400-29581600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:29569400-29582400	Strong transcription	Fetal Lung	lung
28	chr6:29569400-29592000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr6:29569400-29595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:29569600-29581800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr6:29569600-29582400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:29569800-29583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:29569800-29583200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:29570000-29576200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr6:29570000-29577400	Strong transcription	NHLF	lung
36	chr6:29570000-29581600	Strong transcription	Lung	lung
37	chr6:29570000-29582600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:29570200-29575600	Weak transcription	Fetal Intestine Large	intestine
39	chr6:29570200-29575800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:29570200-29576400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:29570200-29577400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:29570200-29577600	Strong transcription	Adipose Nuclei	Adipose
43	chr6:29570200-29580200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:29570200-29582600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:29570400-29575400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr6:29570400-29577400	Strong transcription	Primary B cells from cord blood	blood
47	chr6:29570400-29577600	Strong transcription	Aorta	Aorta
48	chr6:29570600-29577400	Strong transcription	Right Ventricle	heart
49	chr6:29570800-29582000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:29570800-29582200	Strong transcription	Colon Smooth Muscle	Colon

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