Variant report

Variant	rs34002582
Chromosome Location	chr12:65061710-65061711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65060197..65063075-chr12:65066604..65068445,2	K562	blood:
2	chr12:65004967..65007120-chr12:65061292..65063041,2	K562	blood:
3	chr12:65056764..65058467-chr12:65059357..65061910,2	K562	blood:
4	chr12:65061393..65063543-chr12:65063755..65066081,2	MCF-7	breast:
5	chr12:65052809..65057166-chr12:65058772..65061911,4	MCF-7	breast:
6	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10128936	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12311754	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12832292	0.93[EUR][1000 genomes]
rs17176378	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35648703	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35772370	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35947911	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4495970	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56061516	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61463437	0.86[EUR][1000 genomes];0.86[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	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65047800-65063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:65048000-65063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:65048400-65062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:65049200-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:65056200-65062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:65056400-65061800	Enhancers	Hela-S3	cervix
7	chr12:65057200-65063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:65057800-65063200	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:65058200-65062000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:65058200-65062600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:65058200-65062600	Enhancers	Psoas Muscle	Psoas
12	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:65058400-65063000	Enhancers	Primary B cells from cord blood	blood
14	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
15	chr12:65058600-65061800	Enhancers	Ovary	ovary
16	chr12:65058800-65062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:65058800-65062200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:65058800-65062400	Enhancers	Right Atrium	heart
19	chr12:65058800-65063000	Enhancers	HepG2	liver
20	chr12:65058800-65063200	Enhancers	K562	blood
21	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
22	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:65059000-65061800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:65059000-65063000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:65059000-65063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:65059200-65061800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:65059200-65062600	Enhancers	Left Ventricle	heart
29	chr12:65059200-65062600	Enhancers	Lung	lung
30	chr12:65059200-65063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:65059400-65062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:65059400-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:65059400-65062400	Enhancers	Colonic Mucosa	Colon
34	chr12:65059400-65062600	Enhancers	Pancreas	Pancrea
35	chr12:65059400-65063000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:65059400-65063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:65059400-65065200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
40	chr12:65059600-65062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:65059600-65063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:65059600-65063000	Enhancers	Fetal Thymus	thymus
43	chr12:65059600-65064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:65059800-65062400	Enhancers	Fetal Lung	lung
45	chr12:65059800-65062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:65059800-65062800	Weak transcription	HMEC	breast
47	chr12:65059800-65063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:65059800-65063000	Weak transcription	Brain Substantia Nigra	brain
49	chr12:65059800-65063000	Weak transcription	HSMM	muscle
50	chr12:65060000-65062800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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