Variant report

Variant	rs61909964
Chromosome Location	chr12:4763404-4763405
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
2	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
3	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
4	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:
5	chr12:4762857..4765662-chr12:4767685..4769794,2	K562	blood:
6	chr12:4762342..4764303-chr12:4764418..4767058,2	K562	blood:

Variant related genes	Relation type
ENSG00000255639	Chromatin interaction
ENSG00000111254	Chromatin interaction
ENSG00000139180	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10849115	0.84[EUR][1000 genomes]
rs11608546	0.91[EUR][1000 genomes]
rs11608895	0.87[EUR][1000 genomes]
rs11610298	0.83[EUR][1000 genomes]
rs11614297	0.87[EUR][1000 genomes]
rs11614450	0.83[EUR][1000 genomes]
rs11615364	1.00[EUR][1000 genomes]
rs11615397	0.91[EUR][1000 genomes]
rs12580262	0.83[EUR][1000 genomes]
rs34392018	0.87[EUR][1000 genomes]
rs61909646	0.91[EUR][1000 genomes]
rs61909657	0.83[EUR][1000 genomes]
rs61909658	0.87[EUR][1000 genomes]
rs61909659	0.87[EUR][1000 genomes]
rs61909960	0.91[EUR][1000 genomes]
rs61909961	0.91[EUR][1000 genomes]
rs61909962	0.83[EUR][1000 genomes]
rs61909963	0.91[EUR][1000 genomes]
rs61911360	0.87[EUR][1000 genomes]
rs61911366	0.91[EUR][1000 genomes]
rs61911367	0.91[EUR][1000 genomes]
rs61911368	0.91[EUR][1000 genomes]
rs61911369	0.91[EUR][1000 genomes]
rs61911370	0.91[EUR][1000 genomes]
rs7137549	0.83[EUR][1000 genomes]
rs7971891	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv898625	chr12:4759380-4771682	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 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	chr12:4759000-4764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4759000-4764000	Weak transcription	Lung	lung
3	chr12:4759000-4764200	Weak transcription	Esophagus	oesophagus
4	chr12:4759000-4764400	Weak transcription	Aorta	Aorta
5	chr12:4759000-4764400	Weak transcription	Pancreas	Pancrea
6	chr12:4759000-4772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:4759200-4764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:4759200-4764400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:4759200-4776200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:4759400-4764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:4759400-4767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:4759600-4764400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:4759600-4764800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:4759600-4767000	Weak transcription	Stomach Mucosa	stomach
16	chr12:4759800-4763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:4759800-4763600	Weak transcription	Colonic Mucosa	Colon
18	chr12:4759800-4764200	Weak transcription	NHLF	lung
19	chr12:4760000-4763600	Weak transcription	Fetal Brain Female	brain
20	chr12:4760000-4763600	Weak transcription	K562	blood
21	chr12:4760000-4763600	Weak transcription	NHDF-Ad	bronchial
22	chr12:4760000-4764000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:4760000-4764200	Weak transcription	Gastric	stomach
24	chr12:4760000-4766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:4760000-4766600	Weak transcription	Fetal Brain Male	brain
26	chr12:4760200-4763600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:4760200-4763600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:4760200-4764000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:4760200-4764000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:4760200-4764000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:4760200-4765000	Weak transcription	Psoas Muscle	Psoas
32	chr12:4760800-4764000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:4760800-4782400	Strong transcription	Primary T cells from cord blood	blood
34	chr12:4761000-4764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:4761200-4765600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:4761800-4763600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:4761800-4763600	Weak transcription	Brain Substantia Nigra	brain
38	chr12:4761800-4782200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:4762200-4763600	Weak transcription	Primary B cells from cord blood	blood
40	chr12:4762200-4779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:4762200-4783600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:4762600-4763600	Weak transcription	Small Intestine	intestine
43	chr12:4762600-4768800	Weak transcription	Fetal Heart	heart
44	chr12:4762600-4773000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:4762600-4773400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:4762600-4779600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:4762600-4780000	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:4762600-4782800	Strong transcription	Adipose Nuclei	Adipose
49	chr12:4762800-4779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:4762800-4781000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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