Variant report

Variant	rs12301118
Chromosome Location	chr12:51145877-51145878
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51145798-51145902	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:51145835-51146438	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:51145698-51145990	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:51145862-51146060	GM12878	blood:	n/a	n/a
5	FOSL2	chr12:51145675-51146014	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:51145760-51146085	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51139833..51142422-chr12:51145085..51147919,2	MCF-7	breast:
2	chr12:51144572..51146832-chr12:51148716..51151527,2	K562	blood:
3	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
4	chr12:51143226..51146888-chr12:51156078..51159984,4	K562	blood:
5	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
6	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:
7	chr12:51145625..51148409-chr12:51149205..51150872,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271018	TF binding region
ENSG00000123268	Chromatin interaction
ENSG00000271018	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11169548	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296966	0.85[AMR][1000 genomes]
rs12299989	1.00[YRI][hapmap]
rs12301934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322206	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs17124949	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124978	1.00[YRI][hapmap]
rs939633	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:51135800-51146000	Weak transcription	NHDF-Ad	bronchial
3	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
4	chr12:51138800-51146000	Weak transcription	NHLF	lung
5	chr12:51139000-51146600	Weak transcription	Colonic Mucosa	Colon
6	chr12:51139000-51147200	Weak transcription	Gastric	stomach
7	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51139200-51148600	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:51139600-51146400	Weak transcription	Hela-S3	cervix
10	chr12:51139600-51156000	Weak transcription	A549	lung
11	chr12:51139800-51147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:51140400-51147400	Weak transcription	Esophagus	oesophagus
13	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:51140600-51147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51141400-51147000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:51141600-51147000	Weak transcription	Fetal Brain Male	brain
17	chr12:51141600-51149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
20	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:51142000-51146000	Weak transcription	Right Ventricle	heart
22	chr12:51142000-51146600	Weak transcription	Aorta	Aorta
23	chr12:51142000-51147000	Weak transcription	Dnd41	blood
24	chr12:51142000-51147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:51142000-51147400	Weak transcription	Ovary	ovary
26	chr12:51142000-51156200	Weak transcription	HMEC	breast
27	chr12:51142000-51156200	Weak transcription	Osteobl	bone
28	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
29	chr12:51142200-51146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:51142200-51146600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:51142200-51147400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:51142200-51147600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:51142200-51156400	Weak transcription	NH-A	brain
38	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
40	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
43	chr12:51143000-51146000	Strong transcription	Brain Hippocampus Middle	brain
44	chr12:51143400-51147000	Weak transcription	Left Ventricle	heart
45	chr12:51143600-51147800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:51143600-51149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:51143800-51147000	Weak transcription	NHEK	skin
50	chr12:51143800-51156000	Weak transcription	Thymus	Thymus

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