Variant report

Variant	rs59196507
Chromosome Location	chr3:52164361-52164362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52029698..52031371-chr3:52163880..52165826,2	K562	blood:
2	chr3:52159946..52161599-chr3:52163092..52165339,2	K562	blood:
3	chr3:52162996..52167625-chr3:52168207..52172862,5	K562	blood:

Variant related genes	Relation type
ENSG00000162244	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10433611	1.00[AMR][1000 genomes]
rs2089225	1.00[AMR][1000 genomes]
rs323888	1.00[AMR][1000 genomes]
rs323899	1.00[AMR][1000 genomes]
rs323901	1.00[AMR][1000 genomes]
rs352646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35898691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57236484	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61333587	1.00[AMR][1000 genomes]
rs6446153	1.00[AMR][1000 genomes]
rs72955239	1.00[AMR][1000 genomes]
rs72955243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7430706	1.00[AMR][1000 genomes]
rs7612847	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
6	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:52136800-52187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:52140400-52178200	Strong transcription	Dnd41	blood
4	chr3:52148600-52179800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:52152200-52164400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:52155200-52180000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:52155200-52187200	Weak transcription	Colonic Mucosa	Colon
8	chr3:52156200-52178000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:52156200-52187600	Weak transcription	Primary T cells from cord blood	blood
10	chr3:52156600-52177800	Weak transcription	Fetal Brain Female	brain
11	chr3:52157200-52166400	Weak transcription	Esophagus	oesophagus
12	chr3:52157200-52171600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:52157200-52187600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:52157400-52178200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:52157400-52187200	Weak transcription	Fetal Kidney	kidney
16	chr3:52157600-52165200	Weak transcription	GM12878-XiMat	blood
17	chr3:52157600-52178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:52157800-52170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:52158600-52172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:52159800-52169200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:52160200-52170200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:52160200-52179600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:52160400-52167200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:52160600-52182600	Weak transcription	NHDF-Ad	bronchial
25	chr3:52160800-52169600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:52161200-52166800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:52161200-52176400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:52161400-52169200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:52161400-52178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:52162400-52167800	Weak transcription	Fetal Thymus	thymus
31	chr3:52162400-52184800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:52162600-52164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:52162600-52165600	Weak transcription	Brain Anterior Caudate	brain
34	chr3:52162600-52165600	Weak transcription	Fetal Heart	heart
35	chr3:52162600-52167400	Weak transcription	Gastric	stomach
36	chr3:52162600-52167400	Weak transcription	NHLF	lung
37	chr3:52162600-52167600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:52162600-52168800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:52162600-52170200	Weak transcription	Spleen	Spleen
40	chr3:52162600-52170600	Weak transcription	Osteobl	bone
41	chr3:52162600-52171400	Weak transcription	Right Ventricle	heart
42	chr3:52162600-52172600	Weak transcription	Ovary	ovary
43	chr3:52162800-52164400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:52162800-52165600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:52162800-52166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:52162800-52169000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:52162800-52169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:52162800-52170200	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:52162800-52170200	Weak transcription	Right Atrium	heart
50	chr3:52162800-52170200	Weak transcription	HUVEC	blood vessel

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