Variant report

Variant	rs614167
Chromosome Location	chr1:210425895-210425896
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210425064..210427763-chr1:210429137..210431725,3	MCF-7	breast:
2	chr1:210424216..210425917-chr1:210546411..210548100,2	K562	blood:
3	chr1:210424564..210426699-chr1:210446134..210449273,3	MCF-7	breast:
4	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
5	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
6	chr1:210023576..210025392-chr1:210424687..210427051,2	MCF-7	breast:
7	chr1:210403920..210408133-chr1:210424303..210428339,6	MCF-7	breast:
8	chr1:210425601..210427456-chr1:210487995..210489554,2	MCF-7	breast:
9	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:
10	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10489391	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10863818	0.90[AMR][1000 genomes]
rs11119455	0.90[AMR][1000 genomes]
rs11119456	0.82[AMR][1000 genomes]
rs12030512	0.83[AFR][1000 genomes]
rs12030856	0.83[AFR][1000 genomes]
rs12034871	0.83[AFR][1000 genomes]
rs12040684	0.83[AFR][1000 genomes]
rs12067807	0.81[ASN][1000 genomes]
rs12069380	0.84[AMR][1000 genomes]
rs12069491	0.82[AMR][1000 genomes]
rs12070628	0.81[AMR][1000 genomes]
rs12083219	0.81[ASN][1000 genomes]
rs1774107	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4844987	0.90[AMR][1000 genomes]
rs4844988	0.84[AMR][1000 genomes]
rs4844989	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4844996	0.83[AFR][1000 genomes]
rs583148	0.83[AMR][1000 genomes]
rs587203	0.84[AMR][1000 genomes]
rs588197	0.83[AMR][1000 genomes]
rs590380	0.83[AMR][1000 genomes]
rs60154123	0.83[AFR][1000 genomes]
rs608791	0.83[AMR][1000 genomes]
rs628423	0.84[AMR][1000 genomes]
rs628869	0.84[AMR][1000 genomes]
rs628908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs645311	0.84[AMR][1000 genomes]
rs645890	0.83[AMR][1000 genomes]
rs650728	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs652241	0.83[AMR][1000 genomes]
rs652256	0.83[AMR][1000 genomes]
rs661190	0.81[AMR][1000 genomes]
rs662424	0.82[AMR][1000 genomes]
rs664072	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664097	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs672819	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs689248	0.83[AMR][1000 genomes]
rs701941	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs701942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701943	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs701944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7416285	0.81[ASN][1000 genomes]
rs815358	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs845452	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs845455	1.00[AFR][1000 genomes];0.88[EUR][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3373545	chr1:210423754-210426302	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
2	chr1:210423800-210426600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:210424000-210426400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:210424000-210426400	Enhancers	Fetal Brain Male	brain
5	chr1:210424000-210426600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:210424000-210426600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:210424200-210426200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:210424200-210426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:210424400-210426000	Bivalent Enhancer	Liver	Liver
10	chr1:210425000-210426000	Flanking Active TSS	NHEK	skin
11	chr1:210425000-210426200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
12	chr1:210425000-210426200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:210425000-210426600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:210425200-210426000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr1:210425200-210426400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:210425200-210426400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:210425200-210426400	Bivalent Enhancer	Spleen	Spleen
18	chr1:210425400-210426000	Enhancers	Fetal Kidney	kidney
19	chr1:210425400-210426000	Enhancers	Right Ventricle	heart
20	chr1:210425400-210426200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr1:210425400-210426200	Enhancers	Esophagus	oesophagus
22	chr1:210425400-210426200	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr1:210425400-210426200	Bivalent Enhancer	Fetal Lung	lung
24	chr1:210425400-210426400	Enhancers	Pancreas	Pancrea
25	chr1:210425400-210426600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:210425400-210426600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:210425400-210426600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
28	chr1:210425400-210426600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:210425400-210426600	Bivalent Enhancer	Fetal Thymus	thymus
30	chr1:210425400-210426600	Enhancers	Left Ventricle	heart
31	chr1:210425400-210426600	Enhancers	Lung	lung
32	chr1:210425400-210426800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr1:210425400-210427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:210425400-210433000	Weak transcription	Right Atrium	heart
35	chr1:210425600-210426000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr1:210425600-210426000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:210425600-210426000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:210425600-210426000	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr1:210425600-210426000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr1:210425600-210426000	Enhancers	Fetal Brain Female	brain
41	chr1:210425600-210426000	Enhancers	Gastric	stomach
42	chr1:210425600-210426000	Bivalent Enhancer	HSMMtube	muscle
43	chr1:210425600-210426200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:210425600-210426400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr1:210425600-210426400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:210425600-210426400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:210425600-210426400	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:210425600-210426400	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr1:210425600-210426600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:210425600-210426600	Bivalent Enhancer	Fetal Intestine Small	intestine

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