Variant report

Variant	rs17382844
Chromosome Location	chr1:85723318-85723319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
2	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
3	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10158486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493763	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]
rs10782544	0.90[ASN][1000 genomes]
rs11161562	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12126112	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126141	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134420	0.94[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136214	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12729231	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12757160	0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698331	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71652692	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85707800-85724400	Weak transcription	Lung	lung
2	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
3	chr1:85710400-85724000	Weak transcription	Ovary	ovary
4	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
5	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:85711600-85723800	Weak transcription	HSMMtube	muscle
11	chr1:85712200-85724000	Weak transcription	Fetal Stomach	stomach
12	chr1:85713200-85724000	Weak transcription	Thymus	Thymus
13	chr1:85714600-85724200	Weak transcription	Gastric	stomach
14	chr1:85714800-85723400	Weak transcription	Fetal Brain Male	brain
15	chr1:85715000-85724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:85715200-85724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:85716000-85723400	Weak transcription	Spleen	Spleen
18	chr1:85716200-85723600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:85716200-85723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:85716600-85723600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:85716800-85723400	Strong transcription	Fetal Thymus	thymus
22	chr1:85716800-85723800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:85716800-85723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:85717000-85723400	Strong transcription	NHDF-Ad	bronchial
25	chr1:85717000-85723800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:85717600-85723400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:85718200-85724200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:85718400-85724000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:85718600-85723800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:85719000-85724000	Weak transcription	Psoas Muscle	Psoas
31	chr1:85719200-85724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:85719200-85724000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:85719600-85724200	Weak transcription	Esophagus	oesophagus
34	chr1:85720200-85724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:85720600-85723400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:85721000-85723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:85721200-85723400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:85721400-85723400	Genic enhancers	Liver	Liver
39	chr1:85721400-85723400	Strong transcription	Placenta	Placenta
40	chr1:85721400-85723400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:85721600-85723400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:85721600-85723400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:85721600-85723400	Genic enhancers	Adipose Nuclei	Adipose
44	chr1:85721600-85723600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:85721600-85723800	Genic enhancers	Colon Smooth Muscle	Colon
46	chr1:85722000-85724000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:85722600-85723400	Genic enhancers	Primary T cells from cord blood	blood
48	chr1:85722600-85723400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:85722600-85723400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:85722600-85723400	Genic enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links