Variant report

Variant	rs11831457
Chromosome Location	chr12:121654389-121654390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121645581..121650866-chr12:121650989..121654547,8	K562	blood:
2	chr12:121651456..121655222-chr12:121658060..121661321,3	MCF-7	breast:
3	chr12:121653697..121655351-chr12:121657528..121659193,2	K562	blood:
4	chr12:121653275..121655297-chr12:121661373..121663256,2	MCF-7	breast:
5	chr12:121654296..121656580-chr12:121660522..121663384,2	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

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

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

rs_ID	r²[population]
rs11829316	1.00[AMR][1000 genomes]
rs11830060	1.00[AMR][1000 genomes]
rs11831115	1.00[AMR][1000 genomes]
rs11831783	1.00[AMR][1000 genomes]
rs57210735	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59139671	1.00[AMR][1000 genomes]
rs59706799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403879	1.00[AMR][1000 genomes]
rs73403886	1.00[AMR][1000 genomes]
rs73403898	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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121648800-121655800	Weak transcription	Aorta	Aorta
2	chr12:121648800-121660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121648800-121661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:121648800-121666600	Weak transcription	Ovary	ovary
5	chr12:121649000-121654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:121649000-121655000	Weak transcription	Fetal Kidney	kidney
7	chr12:121649000-121655000	Weak transcription	Lung	lung
8	chr12:121649000-121656600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:121649000-121659800	Weak transcription	Thymus	Thymus
10	chr12:121649000-121660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:121649000-121660400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121649000-121660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:121649000-121660600	Weak transcription	Brain Germinal Matrix	brain
14	chr12:121649000-121661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:121649000-121661200	Weak transcription	Esophagus	oesophagus
16	chr12:121649000-121665000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:121649000-121666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:121649200-121655400	Weak transcription	Brain Substantia Nigra	brain
23	chr12:121649200-121659600	Weak transcription	Fetal Brain Female	brain
24	chr12:121649400-121654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:121649400-121654600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:121649400-121654800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:121649400-121654800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:121649400-121654800	Weak transcription	Fetal Thymus	thymus
29	chr12:121649400-121655000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:121649400-121655800	Weak transcription	Right Ventricle	heart
31	chr12:121649400-121657000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:121649400-121657200	Genic enhancers	Fetal Intestine Small	intestine
33	chr12:121649400-121660400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:121649400-121660600	Weak transcription	Brain Angular Gyrus	brain
35	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:121649600-121654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:121649600-121655000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:121649600-121660600	Weak transcription	Dnd41	blood
39	chr12:121650000-121660800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:121650000-121660800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:121650200-121654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:121650200-121654600	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:121651200-121654600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:121651400-121655200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:121651800-121654800	Enhancers	Fetal Intestine Large	intestine
46	chr12:121651800-121656000	Enhancers	Liver	Liver
47	chr12:121651800-121656400	Enhancers	Pancreas	Pancrea
48	chr12:121652000-121654800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:121652000-121654800	Weak transcription	Fetal Stomach	stomach
50	chr12:121652000-121655000	Enhancers	HepG2	liver

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