Variant report

Variant	rs7970176
Chromosome Location	chr12:46618715-46618716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46612067..46613640-chr12:46616342..46619054,2	K562	blood:
2	chr12:46618654..46626602-chr12:46659026..46664546,12	MCF-7	breast:
3	chr12:46618211..46621572-chr12:46623361..46625417,5	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10880939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768108	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979828	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:46610200-46619000	Weak transcription	Psoas Muscle	Psoas
7	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
8	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
9	chr12:46613200-46618800	Strong transcription	HepG2	liver
10	chr12:46613200-46619200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:46613200-46619600	Enhancers	Colon Smooth Muscle	Colon
12	chr12:46613200-46619800	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr12:46613400-46619600	Genic enhancers	Primary B cells from cord blood	blood
14	chr12:46613400-46621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:46613800-46619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:46613800-46639800	Weak transcription	Lung	lung
17	chr12:46614000-46624200	Weak transcription	Fetal Brain Male	brain
18	chr12:46614200-46619400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:46614400-46621600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:46614400-46627400	Weak transcription	Right Ventricle	heart
21	chr12:46614600-46619800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:46615200-46619200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:46615400-46618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:46615600-46632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:46615600-46636600	Weak transcription	Brain Anterior Caudate	brain
26	chr12:46615800-46619600	Strong transcription	HSMM	muscle
27	chr12:46615800-46621600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:46615800-46623600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:46615800-46637800	Weak transcription	Dnd41	blood
30	chr12:46615800-46653800	Weak transcription	NH-A	brain
31	chr12:46616000-46640600	Strong transcription	Fetal Thymus	thymus
32	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:46616200-46619400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:46616200-46621400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:46616200-46621400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:46616200-46636600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:46616400-46620200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:46616400-46620200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:46616400-46637200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:46616400-46637800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:46616600-46619800	Strong transcription	A549	lung
43	chr12:46616800-46618800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:46616800-46619600	Genic enhancers	Primary T cells from cord blood	blood
45	chr12:46616800-46619600	Strong transcription	Placenta	Placenta
46	chr12:46616800-46627200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:46616800-46638600	Strong transcription	HMEC	breast
48	chr12:46616800-46639800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:46616800-46641600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:46617000-46619400	Strong transcription	Primary hematopoietic stem cells	blood

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