Variant report

Variant	rs7517085
Chromosome Location	chr1:149971023-149971024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149969487..149971683-chr1:149973206..149975564,2	K562	blood:
2	chr1:149949788..149952125-chr1:149969648..149972442,2	MCF-7	breast:
3	chr1:149970241..149972986-chr1:150000025..150002958,2	K562	blood:
4	chr1:149969844..149972082-chr1:149974172..149976083,2	MCF-7	breast:
5	chr1:149857332..149858962-chr1:149970952..149972466,2	MCF-7	breast:
6	chr1:149970593..149972989-chr1:149993853..149996794,2	K562	blood:
7	chr1:149857204..149859417-chr1:149969601..149971755,3	K562	blood:
8	chr1:149970611..149976908-chr1:149978466..149983585,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1061955	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205313	1.00[AMR][1000 genomes]
rs11205314	1.00[AMR][1000 genomes]
rs12060171	1.00[AMR][1000 genomes]
rs12064434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082035	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091025	1.00[AMR][1000 genomes]
rs12091858	1.00[AMR][1000 genomes]
rs12091904	1.00[AMR][1000 genomes]
rs16833063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833175	1.00[AMR][1000 genomes]
rs16833178	1.00[AMR][1000 genomes]
rs16838432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4279885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58342123	1.00[AMR][1000 genomes]
rs74126211	1.00[AMR][1000 genomes]
rs9804143	1.00[AMR][1000 genomes]
rs9988489	0.93[AFR][1000 genomes];1.00[AMR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149948200-149973000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:149948200-149977400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:149948400-149971600	Weak transcription	Fetal Brain Male	brain
5	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
6	chr1:149949400-149975400	Weak transcription	Placenta	Placenta
7	chr1:149949600-149974400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:149952200-149980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:149953000-149978800	Weak transcription	Pancreas	Pancrea
10	chr1:149957800-149978600	Weak transcription	Spleen	Spleen
11	chr1:149958200-149972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:149958800-149973400	Weak transcription	Aorta	Aorta
13	chr1:149959400-149975800	Weak transcription	Fetal Kidney	kidney
14	chr1:149959600-149975400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:149960000-149975400	Weak transcription	Hela-S3	cervix
16	chr1:149964600-149972000	Enhancers	Brain Hippocampus Middle	brain
17	chr1:149965000-149972400	Enhancers	Brain Angular Gyrus	brain
18	chr1:149965000-149978400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:149965000-149981400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:149965200-149972200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:149965200-149976000	Weak transcription	Lung	lung
22	chr1:149965400-149971400	Weak transcription	Fetal Stomach	stomach
23	chr1:149965400-149975600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:149966200-149973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:149966200-149974400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:149966400-149971800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:149967000-149971600	Enhancers	Colon Smooth Muscle	Colon
28	chr1:149967000-149971800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:149967000-149972000	Enhancers	Brain Substantia Nigra	brain
30	chr1:149967400-149978600	Weak transcription	Gastric	stomach
31	chr1:149967600-149971400	Enhancers	Brain Anterior Caudate	brain
32	chr1:149967600-149971400	Weak transcription	Left Ventricle	heart
33	chr1:149967800-149972000	Enhancers	Fetal Heart	heart
34	chr1:149967800-149981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:149968000-149972800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:149968200-149971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:149968200-149973200	Weak transcription	Right Atrium	heart
38	chr1:149968200-149980800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:149968400-149971600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:149968400-149971600	Enhancers	Stomach Mucosa	stomach
41	chr1:149968400-149972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:149968400-149972000	Strong transcription	NHDF-Ad	bronchial
43	chr1:149968400-149972800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:149968400-149973600	Weak transcription	A549	lung
45	chr1:149968400-149980800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:149968600-149971800	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:149968600-149980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:149969000-149971200	Weak transcription	NH-A	brain
49	chr1:149969000-149971800	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:149969000-149972000	Weak transcription	NHLF	lung

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