Variant report

Variant	rs12316619
Chromosome Location	chr12:51197794-51197795
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51197517..51200061-chr12:51208152..51209751,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12299989	1.00[AMR][1000 genomes]
rs12309321	1.00[AMR][1000 genomes]
rs17124978	1.00[AMR][1000 genomes]
rs7312423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971943	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51189600-51199800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:51190200-51204000	Weak transcription	Gastric	stomach
5	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
6	chr12:51193200-51200000	Weak transcription	Thymus	Thymus
7	chr12:51193200-51200000	Weak transcription	Spleen	Spleen
8	chr12:51193200-51203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:51193200-51204400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
11	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
14	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
15	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
16	chr12:51193400-51203200	Weak transcription	Colonic Mucosa	Colon
17	chr12:51193400-51204000	Weak transcription	Psoas Muscle	Psoas
18	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:51193800-51202800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:51193800-51204200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:51193800-51204400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:51193800-51204400	Weak transcription	Fetal Brain Male	brain
23	chr12:51194000-51200000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:51194000-51200000	Weak transcription	K562	blood
25	chr12:51194000-51203200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:51194000-51203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:51194000-51203400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:51194000-51204200	Weak transcription	NHLF	lung
29	chr12:51194000-51204400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:51194000-51204400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:51194000-51204400	Weak transcription	NHEK	skin
32	chr12:51194000-51204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:51194200-51203200	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:51194200-51203200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:51194200-51203400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:51194400-51200000	Weak transcription	Adipose Nuclei	Adipose
37	chr12:51194400-51201400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:51194400-51202800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:51194400-51203400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:51194400-51203400	Weak transcription	HUVEC	blood vessel
41	chr12:51194400-51203600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:51194400-51204400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:51194400-51204400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:51194400-51204400	Weak transcription	Right Ventricle	heart
45	chr12:51194400-51204400	Weak transcription	HSMMtube	muscle
46	chr12:51194400-51204400	Weak transcription	NH-A	brain
47	chr12:51194400-51204400	Weak transcription	NHDF-Ad	bronchial
48	chr12:51194400-51204600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:51194400-51204600	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:51194400-51207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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