Variant report

Variant	rs7306490
Chromosome Location	chr12:11815405-11815406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11814350..11816547-chr12:11823249..11825105,2	K562	blood:
2	chr12:11814416..11816234-chr12:11817623..11820133,2	MCF-7	breast:
3	chr12:11801381..11803825-chr12:11814827..11819033,3	K562	blood:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11054420	1.00[EUR][1000 genomes]
rs12296206	1.00[EUR][1000 genomes]
rs1641623	1.00[EUR][1000 genomes]
rs55959071	1.00[EUR][1000 genomes]
rs58160049	1.00[EUR][1000 genomes]
rs59624591	1.00[EUR][1000 genomes]
rs59692713	1.00[EUR][1000 genomes]
rs60499077	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61366849	1.00[EUR][1000 genomes]
rs7294334	1.00[EUR][1000 genomes]
rs7305726	1.00[EUR][1000 genomes]
rs7308344	1.00[EUR][1000 genomes]
rs73288732	1.00[EUR][1000 genomes]
rs73288733	1.00[EUR][1000 genomes]
rs73288736	1.00[EUR][1000 genomes]
rs73288738	1.00[EUR][1000 genomes]
rs73288740	1.00[EUR][1000 genomes]
rs73288746	1.00[EUR][1000 genomes]
rs73288748	1.00[EUR][1000 genomes]
rs73288753	1.00[EUR][1000 genomes]
rs73288756	1.00[EUR][1000 genomes]
rs73288757	1.00[EUR][1000 genomes]
rs73288764	1.00[EUR][1000 genomes]
rs74060969	1.00[EUR][1000 genomes]
rs74061000	1.00[EUR][1000 genomes]
rs74062355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74062357	1.00[EUR][1000 genomes]
rs74062364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975230	1.00[EUR][1000 genomes]
rs7975331	1.00[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
3	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:11806600-11819200	Weak transcription	NHLF	lung
5	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
6	chr12:11808600-11816400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:11808600-11818800	Genic enhancers	Primary hematopoietic stem cells	blood
8	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:11809200-11816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:11810000-11816200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:11810800-11818600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:11811000-11817000	Weak transcription	Fetal Kidney	kidney
13	chr12:11811600-11815600	Enhancers	Fetal Heart	heart
14	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
15	chr12:11812200-11816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:11812200-11818200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:11812200-11819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:11812200-11832600	Weak transcription	A549	lung
19	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:11812400-11815600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:11812400-11819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:11812600-11815600	Strong transcription	Fetal Stomach	stomach
24	chr12:11812600-11815800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:11812800-11815600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:11812800-11815800	Weak transcription	HSMM	muscle
27	chr12:11812800-11816000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:11812800-11821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:11813000-11818800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:11813400-11816200	Strong transcription	Primary B cells from cord blood	blood
33	chr12:11813400-11816600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:11813400-11820800	Enhancers	Left Ventricle	heart
35	chr12:11813600-11815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:11813600-11816000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:11813600-11816400	Enhancers	Pancreas	Pancrea
38	chr12:11813600-11816600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:11813800-11817200	Enhancers	Colon Smooth Muscle	Colon
40	chr12:11813800-11817200	Enhancers	Right Atrium	heart
41	chr12:11814000-11815600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:11814000-11815600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:11814000-11816400	Enhancers	Esophagus	oesophagus
44	chr12:11814000-11816400	Enhancers	Gastric	stomach
45	chr12:11814000-11816600	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:11814000-11817000	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:11814200-11816000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:11814200-11816400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:11814200-11816600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:11814200-11819000	Enhancers	Psoas Muscle	Psoas

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