Variant report

Variant	rs35674528
Chromosome Location	chr12:65062481-65062482
allele	A/G
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	chr12:65061393..65063543-chr12:65063755..65066081,2	MCF-7	breast:
4	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:
5	chr12:64844874..64846607-chr12:65061898..65064676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1008159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1008160	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175470	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175471	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175476	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175478	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175481	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175497	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175509	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230536	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12814316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816847	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12824246	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12830436	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12833931	0.87[EUR][1000 genomes]
rs17223244	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17223377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17223391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823442	0.87[EUR][1000 genomes]
rs2078398	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35512928	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35705715	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35860561	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7303641	0.82[EUR][1000 genomes]
rs7304648	0.82[EUR][1000 genomes]
rs7959471	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:111 , 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	chr12:65057200-65063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:65057800-65063200	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:65058200-65062600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:65058200-65062600	Enhancers	Psoas Muscle	Psoas
7	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:65058400-65063000	Enhancers	Primary B cells from cord blood	blood
9	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
10	chr12:65058800-65063000	Enhancers	HepG2	liver
11	chr12:65058800-65063200	Enhancers	K562	blood
12	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
13	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr12:65059000-65063000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:65059000-65063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:65059200-65062600	Enhancers	Left Ventricle	heart
18	chr12:65059200-65062600	Enhancers	Lung	lung
19	chr12:65059200-65063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:65059400-65062600	Enhancers	Pancreas	Pancrea
21	chr12:65059400-65063000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:65059400-65063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:65059400-65065200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
26	chr12:65059600-65062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:65059600-65063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:65059600-65063000	Enhancers	Fetal Thymus	thymus
29	chr12:65059600-65064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:65059800-65062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:65059800-65062800	Weak transcription	HMEC	breast
32	chr12:65059800-65063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:65059800-65063000	Weak transcription	Brain Substantia Nigra	brain
34	chr12:65059800-65063000	Weak transcription	HSMM	muscle
35	chr12:65060000-65062800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:65060000-65063000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:65060000-65063000	Enhancers	HUVEC	blood vessel
38	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:65060200-65069200	Weak transcription	Osteobl	bone
40	chr12:65060400-65063000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:65060400-65065600	Enhancers	Spleen	Spleen
42	chr12:65060600-65062600	Weak transcription	Thymus	Thymus
43	chr12:65060600-65062800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr12:65060600-65062800	Enhancers	A549	lung
45	chr12:65060600-65063000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:65060600-65063000	Weak transcription	Fetal Kidney	kidney
47	chr12:65060600-65063000	Weak transcription	NHLF	lung
48	chr12:65060600-65066400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:65060800-65062600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:65060800-65062800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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