Variant report

Variant	rs34745873
Chromosome Location	chr4:87882815-87882816
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
2	chr4:87854986..87857497-chr4:87880594..87884426,5	MCF-7	breast:
3	chr4:87880122..87883120-chr4:87994863..87997796,2	K562	blood:
4	chr4:87854534..87858113-chr4:87881394..87886236,9	K562	blood:
5	chr4:87843404..87844119-chr4:87882783..87883663,2	MCF-7	breast:
6	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
7	chr4:87881072..87882876-chr4:87886883..87888744,2	MCF-7	breast:
8	chr4:87882295..87884551-chr4:87895406..87897794,3	K562	blood:
9	chr4:87861386..87863585-chr4:87881486..87883645,2	K562	blood:
10	chr4:87877638..87879941-chr4:87882578..87885517,2	K562	blood:
11	chr4:87852704..87859599-chr4:87881193..87886124,9	K562	blood:
12	chr4:87880314..87885431-chr4:87925237..87930359,11	K562	blood:
13	chr4:87846751..87849645-chr4:87881394..87883091,2	K562	blood:
14	chr4:87881889..87884650-chr4:87886335..87888542,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489044	1.00[AFR][1000 genomes]
rs10516787	1.00[AFR][1000 genomes]
rs13109968	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13136338	1.00[AFR][1000 genomes]
rs13136465	1.00[AFR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17702203	1.00[AFR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes]
rs34227282	1.00[AFR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes]
rs41525049	1.00[AFR][1000 genomes]
rs431836	1.00[AFR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes]
rs62306505	1.00[AFR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes]
rs62306510	1.00[AFR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes]
rs767314	1.00[AFR][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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
6	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:87876600-87886400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:87877400-87886200	Weak transcription	Hela-S3	cervix
11	chr4:87878000-87883400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:87878800-87891600	Weak transcription	NHEK	skin
13	chr4:87879000-87884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:87879600-87883200	Enhancers	Stomach Mucosa	stomach
15	chr4:87879600-87885400	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:87880000-87883200	Enhancers	Adipose Nuclei	Adipose
17	chr4:87880000-87883200	Enhancers	Liver	Liver
18	chr4:87880000-87883400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:87880000-87883600	Enhancers	Fetal Intestine Small	intestine
20	chr4:87880000-87885000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:87880200-87883000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:87880200-87883000	Enhancers	Fetal Lung	lung
23	chr4:87880200-87883000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:87880200-87883200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:87880200-87883800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:87880200-87883800	Enhancers	Fetal Intestine Large	intestine
27	chr4:87880600-87883000	Enhancers	NHLF	lung
28	chr4:87880600-87883200	Enhancers	Brain Substantia Nigra	brain
29	chr4:87880600-87883200	Enhancers	Fetal Kidney	kidney
30	chr4:87880600-87884000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:87880600-87884200	Genic enhancers	Placenta	Placenta
32	chr4:87880800-87883000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:87880800-87883000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:87880800-87883000	Enhancers	Left Ventricle	heart
35	chr4:87880800-87883000	Enhancers	Psoas Muscle	Psoas
36	chr4:87880800-87883000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr4:87880800-87883000	Enhancers	Rectal Smooth Muscle	rectum
38	chr4:87881000-87883000	Enhancers	Right Atrium	heart
39	chr4:87881000-87883000	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:87881000-87884600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:87881000-87891800	Weak transcription	Lung	lung
42	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
43	chr4:87881200-87883800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:87881200-87890000	Weak transcription	Aorta	Aorta
45	chr4:87881400-87884600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:87881600-87883000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:87881600-87883200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:87881600-87883400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:87881600-87884400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:87881600-87884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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