Variant report

Variant	rs60617245
Chromosome Location	chr12:56980848-56980849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56972867..56975335-chr12:56976373..56981711,6	K562	blood:
2	chr12:56979662..56981852-chr12:56983411..56984934,2	K562	blood:
3	chr12:56972892..56975335-chr12:56979018..56981711,3	K562	blood:
4	chr12:56979649..56982527-chr12:57037588..57039465,3	K562	blood:
5	chr12:56907736..56909247-chr12:56979729..56982080,2	K562	blood:
6	chr12:56980057..56982231-chr12:56987671..56989333,2	K562	blood:

Variant related genes	Relation type
ENSG00000207031	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs74095005	1.00[AFR][1000 genomes]
rs74095006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv526706	chr12:56961932-56988342	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56948600-56981200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:56953200-56981200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
4	chr12:56959800-56981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:56960000-56981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:56960000-56981200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:56960000-56981200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56960000-56981200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:56960000-56981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
11	chr12:56960400-56981000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:56961600-56981200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:56964000-56981200	Weak transcription	Liver	Liver
14	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
15	chr12:56964200-56981200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
17	chr12:56965200-56981200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:56965400-56983600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:56965800-56981200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:56968600-56981400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:56972200-56985000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:56972400-56982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:56972800-56985400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:56973400-56981200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:56973800-56990600	Weak transcription	Psoas Muscle	Psoas
26	chr12:56975400-56981200	Weak transcription	Pancreas	Pancrea
27	chr12:56975400-56981200	Weak transcription	HSMMtube	muscle
28	chr12:56975600-56981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:56975800-56981200	Weak transcription	Fetal Brain Female	brain
30	chr12:56975800-56982400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:56975800-56991600	Weak transcription	Small Intestine	intestine
32	chr12:56976000-56981000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:56976000-56981000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:56976000-56981000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:56976000-56981000	Weak transcription	Left Ventricle	heart
36	chr12:56976000-56981200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:56976000-56981200	Weak transcription	Esophagus	oesophagus
38	chr12:56976000-56981200	Weak transcription	Thymus	Thymus
39	chr12:56976000-56981200	Weak transcription	NH-A	brain
40	chr12:56976000-56984800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:56976000-56990600	Weak transcription	GM12878-XiMat	blood
42	chr12:56976200-56981000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:56976200-56981000	Weak transcription	Fetal Kidney	kidney
44	chr12:56976200-56981000	Weak transcription	Right Ventricle	heart
45	chr12:56976200-56981200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:56976200-56981200	Weak transcription	Dnd41	blood
47	chr12:56976200-56981200	Weak transcription	NHDF-Ad	bronchial
48	chr12:56976200-56989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:56976200-56989600	Weak transcription	Colonic Mucosa	Colon
50	chr12:56976200-56991000	Weak transcription	HepG2	liver

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