Variant report

Variant	rs34599140
Chromosome Location	chr4:15691259-15691260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15656248..15659090-chr4:15690576..15694462,3	MCF-7	breast:
2	chr4:15690253..15693117-chr4:15724608..15727161,2	MCF-7	breast:
3	chr4:15690443..15693747-chr4:15694264..15697002,4	MCF-7	breast:
4	chr4:15682706..15688918-chr4:15689234..15693729,6	K562	blood:
5	chr4:15688099..15691851-chr4:15693334..15695870,4	MCF-7	breast:
6	chr4:15686622..15689268-chr4:15689311..15691528,2	K562	blood:
7	chr4:15680881..15687102-chr4:15687861..15693031,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction
ENSG00000237765	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1154577	0.84[ASN][1000 genomes]
rs13106528	1.00[ASN][1000 genomes]
rs13114491	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13122812	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13127507	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13131119	0.84[ASN][1000 genomes]
rs13131285	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13131606	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13138894	1.00[ASN][1000 genomes]
rs13141724	1.00[ASN][1000 genomes]
rs13144428	1.00[ASN][1000 genomes]
rs1468735	1.00[ASN][1000 genomes]
rs1468736	1.00[ASN][1000 genomes]
rs16892143	1.00[ASN][1000 genomes]
rs16892156	1.00[ASN][1000 genomes]
rs17476670	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17476831	1.00[ASN][1000 genomes]
rs2041672	1.00[ASN][1000 genomes]
rs2041673	1.00[ASN][1000 genomes]
rs3182730	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34155734	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34427409	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34831330	1.00[ASN][1000 genomes]
rs34924677	1.00[ASN][1000 genomes]
rs35151159	1.00[ASN][1000 genomes]
rs35196224	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35258636	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35309200	1.00[ASN][1000 genomes]
rs35461787	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35724720	0.84[ASN][1000 genomes]
rs36012186	0.84[ASN][1000 genomes]
rs4267734	0.85[ASN][1000 genomes]
rs4326008	1.00[ASN][1000 genomes]
rs4613560	1.00[ASN][1000 genomes]
rs57275698	0.84[ASN][1000 genomes]
rs6449150	0.85[ASN][1000 genomes]
rs66472670	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67047740	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67089836	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67222859	1.00[ASN][1000 genomes]
rs67224550	1.00[ASN][1000 genomes]
rs6825051	1.00[ASN][1000 genomes]
rs6825815	0.84[ASN][1000 genomes]
rs6834359	1.00[ASN][1000 genomes]
rs73237149	0.84[ASN][1000 genomes]
rs73237151	0.84[ASN][1000 genomes]
rs7699180	0.94[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr4:15684000-15692400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
4	chr4:15684400-15692200	Weak transcription	Right Ventricle	heart
5	chr4:15684800-15691600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:15684800-15691600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:15684800-15692200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:15684800-15692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:15684800-15693600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:15684800-15694200	Weak transcription	Fetal Brain Male	brain
11	chr4:15684800-15704400	Weak transcription	Aorta	Aorta
12	chr4:15685000-15691400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:15685000-15692000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:15685000-15692000	Weak transcription	Right Atrium	heart
15	chr4:15685000-15693000	Weak transcription	Psoas Muscle	Psoas
16	chr4:15685000-15695800	Weak transcription	Stomach Mucosa	stomach
17	chr4:15685800-15691400	Strong transcription	Fetal Thymus	thymus
18	chr4:15685800-15692000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:15686000-15692200	Weak transcription	Brain Angular Gyrus	brain
20	chr4:15686000-15692400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:15686400-15691400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:15686400-15691800	Weak transcription	HepG2	liver
23	chr4:15686400-15692200	Weak transcription	Small Intestine	intestine
24	chr4:15686400-15692800	Weak transcription	GM12878-XiMat	blood
25	chr4:15686600-15691400	Strong transcription	Fetal Intestine Large	intestine
26	chr4:15686600-15691600	Weak transcription	NHLF	lung
27	chr4:15686600-15704400	Weak transcription	Thymus	Thymus
28	chr4:15686800-15691400	Weak transcription	Brain Substantia Nigra	brain
29	chr4:15687000-15691600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:15687000-15692200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:15687200-15691400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:15687200-15691400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:15687200-15691400	Strong transcription	Liver	Liver
34	chr4:15687200-15691600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:15687200-15691800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:15687200-15691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:15687200-15701200	Weak transcription	Fetal Intestine Small	intestine
38	chr4:15687400-15691400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:15687600-15691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:15687600-15692200	Weak transcription	Ovary	ovary
41	chr4:15687600-15696800	Weak transcription	Fetal Stomach	stomach
42	chr4:15687600-15697000	Weak transcription	Esophagus	oesophagus
43	chr4:15687800-15691400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:15687800-15691800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:15687800-15691800	Weak transcription	Fetal Heart	heart
46	chr4:15688000-15691600	Genic enhancers	A549	lung
47	chr4:15688400-15691600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:15688400-15691600	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:15688400-15691800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:15688400-15692200	Weak transcription	H1 Cell Line	embryonic stem cell

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