Variant report

Variant	rs35392237
Chromosome Location	chr12:48198386-48198387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48198197..48199976-chr17:58677533..58679720,2	MCF-7	breast:
2	chr12:48166395..48169503-chr12:48195683..48198388,3	MCF-7	breast:
3	chr12:48196446..48198672-chr12:48203077..48204827,2	K562	blood:
4	chr12:48194244..48196196-chr12:48197765..48200382,2	MCF-7	breast:
5	chr12:48189907..48192102-chr12:48197745..48199769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11837686	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814620	1.00[ASN][1000 genomes]
rs12820931	1.00[ASN][1000 genomes]
rs12828203	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828577	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122326	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34248545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379708	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34785684	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580638	1.00[ASN][1000 genomes]
rs71462981	1.00[ASN][1000 genomes]
rs7299689	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303453	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7971594	1.00[ASN][1000 genomes]
rs7980930	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48178600-48199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:48179800-48201000	Weak transcription	Dnd41	blood
3	chr12:48181200-48199800	Strong transcription	Fetal Intestine Small	intestine
4	chr12:48182000-48206400	Weak transcription	HepG2	liver
5	chr12:48182400-48202000	Weak transcription	Fetal Brain Male	brain
6	chr12:48183000-48204000	Weak transcription	Fetal Kidney	kidney
7	chr12:48189000-48201000	Weak transcription	NH-A	brain
8	chr12:48190800-48201400	Genic enhancers	Fetal Thymus	thymus
9	chr12:48191000-48201200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:48191400-48200000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:48191400-48200200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr12:48191400-48200600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr12:48191400-48201400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:48191400-48202800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:48191600-48201600	Genic enhancers	Thymus	Thymus
16	chr12:48192200-48200200	Genic enhancers	Lung	lung
17	chr12:48192400-48201000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:48192400-48201600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:48192400-48203200	Enhancers	Right Atrium	heart
20	chr12:48192600-48198800	Weak transcription	Fetal Brain Female	brain
21	chr12:48192600-48201400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:48192800-48200200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48192800-48200200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:48193000-48200400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr12:48193200-48200000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:48193200-48200200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr12:48193200-48200200	Enhancers	Pancreas	Pancrea
28	chr12:48193400-48200200	Enhancers	Brain Substantia Nigra	brain
29	chr12:48193400-48203000	Enhancers	Fetal Heart	heart
30	chr12:48193400-48205000	Weak transcription	Brain Germinal Matrix	brain
31	chr12:48193600-48201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:48193800-48201600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:48194000-48200400	Enhancers	Brain Hippocampus Middle	brain
34	chr12:48194200-48200200	Strong transcription	Hela-S3	cervix
35	chr12:48194400-48198600	Weak transcription	Ovary	ovary
36	chr12:48194400-48201400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:48194800-48199800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:48195200-48201600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:48195400-48198400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:48195400-48198600	Enhancers	Spleen	Spleen
41	chr12:48195400-48199600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:48195400-48200400	Genic enhancers	Esophagus	oesophagus
43	chr12:48195400-48200400	Genic enhancers	Fetal Stomach	stomach
44	chr12:48195600-48200200	Enhancers	Colonic Mucosa	Colon
45	chr12:48195800-48200600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:48196000-48198600	Weak transcription	HMEC	breast
47	chr12:48196200-48200400	Strong transcription	NHEK	skin
48	chr12:48196200-48201600	Enhancers	Primary hematopoietic stem cells	blood
49	chr12:48196400-48198600	Weak transcription	Aorta	Aorta
50	chr12:48196600-48199200	Strong transcription	Osteobl	bone

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