Variant report

Variant	rs7300086
Chromosome Location	chr12:48201455-48201456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48173557..48179365-chr12:48198461..48203449,6	K562	blood:
2	chr12:48200516..48204856-chr12:48204984..48208825,6	K562	blood:
3	chr12:48200947..48203542-chr12:48208832..48210426,2	K562	blood:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000268069	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11168248	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55900360	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56077617	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61917653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61917655	0.82[AMR][1000 genomes]
rs7316233	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739841	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv999028	chr12:48199301-48209132	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48182000-48206400	Weak transcription	HepG2	liver
2	chr12:48182400-48202000	Weak transcription	Fetal Brain Male	brain
3	chr12:48183000-48204000	Weak transcription	Fetal Kidney	kidney
4	chr12:48191400-48202800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:48191600-48201600	Genic enhancers	Thymus	Thymus
6	chr12:48192400-48201600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr12:48192400-48203200	Enhancers	Right Atrium	heart
8	chr12:48193400-48203000	Enhancers	Fetal Heart	heart
9	chr12:48193400-48205000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:48193800-48201600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:48195200-48201600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:48196200-48201600	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:48196800-48201600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:48196800-48201600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:48197000-48201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:48197200-48201800	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:48197200-48203400	Enhancers	Psoas Muscle	Psoas
18	chr12:48197800-48202600	Weak transcription	Liver	Liver
19	chr12:48198000-48203200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:48198200-48203400	Enhancers	Right Ventricle	heart
21	chr12:48198600-48201600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr12:48198800-48201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:48199200-48203400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:48199400-48201800	Enhancers	Adipose Nuclei	Adipose
25	chr12:48199400-48201800	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:48199400-48203400	Enhancers	Left Ventricle	heart
27	chr12:48199400-48206400	Weak transcription	Fetal Brain Female	brain
28	chr12:48199600-48203200	Enhancers	Stomach Mucosa	stomach
29	chr12:48199600-48203400	Enhancers	NHDF-Ad	bronchial
30	chr12:48199800-48202800	Genic enhancers	Fetal Intestine Small	intestine
31	chr12:48199800-48204000	Weak transcription	Aorta	Aorta
32	chr12:48199800-48206800	Enhancers	Spleen	Spleen
33	chr12:48200000-48201600	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:48200000-48201600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:48200000-48202800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:48200000-48203400	Enhancers	Gastric	stomach
37	chr12:48200000-48203600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:48200000-48204800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:48200000-48205800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:48200200-48201600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:48200200-48201600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:48200200-48201600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:48200200-48201800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:48200200-48201800	Enhancers	HUVEC	blood vessel
45	chr12:48200200-48202200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:48200200-48203000	Weak transcription	Hela-S3	cervix
47	chr12:48200200-48204200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:48200200-48206600	Enhancers	Lung	lung
49	chr12:48200400-48202000	Genic enhancers	NHEK	skin
50	chr12:48200400-48203400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links