Variant report

Variant	rs4982179
Chromosome Location	chr14:34917830-34917831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34916477..34918370-chr14:34929972..34931910,2	K562	blood:
2	chr14:34914094..34917088-chr14:34917252..34921596,5	K562	blood:
3	chr14:34917560..34921859-chr14:34930023..34933382,10	MCF-7	breast:
4	chr14:34916053..34917977-chr14:34929322..34931910,2	K562	blood:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10132233	0.94[ASN][1000 genomes]
rs10144582	0.94[ASN][1000 genomes]
rs12432137	0.97[ASN][1000 genomes]
rs12434081	0.85[ASN][1000 genomes]
rs2002517	0.94[ASN][1000 genomes]
rs2383633	0.98[ASN][1000 genomes]
rs2383634	0.94[ASN][1000 genomes]
rs28521575	0.93[ASN][1000 genomes]
rs28635949	0.90[ASN][1000 genomes]
rs2891280	0.86[EUR][1000 genomes]
rs4981241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982178	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982180	0.94[ASN][1000 genomes]
rs56241228	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56335218	0.86[EUR][1000 genomes]
rs56728642	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57186368	0.89[ASN][1000 genomes]
rs57469421	0.83[EUR][1000 genomes]
rs58203673	0.81[ASN][1000 genomes]
rs58663784	0.93[ASN][1000 genomes]
rs59394498	0.80[ASN][1000 genomes]
rs7152281	0.88[ASN][1000 genomes]
rs7154588	0.92[ASN][1000 genomes]
rs7156841	0.93[ASN][1000 genomes]
rs7160736	0.89[ASN][1000 genomes]
rs74046052	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74046054	0.98[ASN][1000 genomes]
rs74046057	0.85[ASN][1000 genomes]
rs9783638	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
2	chr14:34900800-34919000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:34901800-34929400	Weak transcription	K562	blood
4	chr14:34903200-34919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:34906000-34922400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:34906600-34919800	Weak transcription	HSMM	muscle
9	chr14:34906800-34918800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:34906800-34922400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:34906800-34923400	Weak transcription	NHLF	lung
12	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:34906800-34928800	Weak transcription	NH-A	brain
14	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:34907000-34918400	Weak transcription	Hela-S3	cervix
16	chr14:34907000-34919200	Weak transcription	NHDF-Ad	bronchial
17	chr14:34907000-34919800	Weak transcription	HUVEC	blood vessel
18	chr14:34907000-34923600	Weak transcription	Liver	Liver
19	chr14:34907200-34919400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:34907200-34919800	Weak transcription	Gastric	stomach
21	chr14:34907200-34922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
23	chr14:34907400-34919400	Weak transcription	Fetal Intestine Large	intestine
24	chr14:34907400-34922400	Weak transcription	Ovary	ovary
25	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
26	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
27	chr14:34908000-34923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:34910000-34921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:34910400-34924600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:34910600-34923400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:34911000-34919000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:34911800-34922400	Weak transcription	Lung	lung
33	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
35	chr14:34912200-34922400	Weak transcription	HSMMtube	muscle
36	chr14:34913000-34924200	Weak transcription	Placenta	Placenta
37	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:34913600-34918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:34913600-34919000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr14:34913600-34920600	Weak transcription	Colonic Mucosa	Colon
41	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:34914000-34921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:34914200-34919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:34914200-34919200	Weak transcription	Dnd41	blood
45	chr14:34914200-34919800	Weak transcription	Fetal Intestine Small	intestine
46	chr14:34914200-34922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:34914400-34921200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:34914600-34919000	Weak transcription	NHEK	skin
49	chr14:34914600-34922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links