Variant report

Variant	rs58811988
Chromosome Location	chr12:120912006-120912007
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:120911978-120912761	MCF-7	breast:	n/a	chr12:120912140-120912156 chr12:120912141-120912155 chr12:120912143-120912152 chr12:120912144-120912154 chr12:120912640-120912649 chr12:120912144-120912153 chr12:120912140-120912156
2	POLR2A	chr12:120911881-120912020	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120903414..120909393-chr12:120910653..120915482,19	MCF-7	breast:
2	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
3	chr12:120909563..120912110-chr12:120924633..120927390,2	K562	blood:
4	chr12:120910777..120912847-chr12:121016682..121018321,2	MCF-7	breast:
5	chr12:120911060..120912767-chr14:53941405..53944319,2	MCF-7	breast:
6	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
7	chr12:120908111..120912110-chr12:120923123..120927882,5	K562	blood:
8	chr12:120909586..120912181-chr12:120920227..120921811,2	K562	blood:
9	chr12:120910390..120913098-chr12:120962746..120965463,2	MCF-7	breast:
10	chr12:120911083..120913950-chr12:120960998..120963373,2	K562	blood:
11	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
12	chr12:120911190..120915382-chr12:120965465..120968340,3	MCF-7	breast:
13	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
14	chr12:120874424..120877390-chr12:120911060..120913556,3	MCF-7	breast:
15	chr12:120910734..120913987-chr12:120933079..120935604,5	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF9	TF binding region
ENSG00000111786	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000241030	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000167272	Chromatin interaction

rs_ID	r²[population]
rs10515974	1.00[EUR][1000 genomes]
rs1167257	1.00[EUR][1000 genomes]
rs13343210	1.00[EUR][1000 genomes]
rs16950279	1.00[EUR][1000 genomes]
rs16950282	1.00[EUR][1000 genomes]
rs1794740	1.00[EUR][1000 genomes]
rs2233672	1.00[EUR][1000 genomes]
rs2522132	1.00[EUR][1000 genomes]
rs57810519	1.00[EUR][1000 genomes]
rs58820431	1.00[EUR][1000 genomes]
rs59046982	1.00[EUR][1000 genomes]
rs59055537	1.00[EUR][1000 genomes]
rs59211409	1.00[EUR][1000 genomes]
rs59253114	1.00[EUR][1000 genomes]
rs59349654	1.00[EUR][1000 genomes]
rs59986216	1.00[EUR][1000 genomes]
rs60688174	1.00[EUR][1000 genomes]
rs6490298	1.00[EUR][1000 genomes]
rs7304206	1.00[EUR][1000 genomes]

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120908400-120912200	Weak transcription	HUVEC	blood vessel
3	chr12:120908400-120912200	Weak transcription	Osteobl	bone
4	chr12:120908400-120912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:120908400-120912400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:120908400-120912400	Weak transcription	Fetal Kidney	kidney
7	chr12:120908400-120912400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:120908400-120912400	Weak transcription	NHDF-Ad	bronchial
9	chr12:120908400-120912600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:120908400-120917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:120908400-120919400	Weak transcription	Right Ventricle	heart
12	chr12:120908400-120919800	Weak transcription	Fetal Intestine Large	intestine
13	chr12:120908400-120925800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:120908400-120926000	Weak transcription	HSMMtube	muscle
15	chr12:120908400-120928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:120908400-120929000	Weak transcription	Psoas Muscle	Psoas
17	chr12:120908400-120932400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:120908400-120932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:120908600-120912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:120908600-120912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:120908600-120912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:120908600-120912200	Weak transcription	HSMM	muscle
23	chr12:120908600-120912200	Weak transcription	NH-A	brain
24	chr12:120908600-120912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:120908600-120912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:120908600-120912400	Weak transcription	NHLF	lung
27	chr12:120908600-120912600	Weak transcription	Ovary	ovary
28	chr12:120908600-120917400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:120908600-120925400	Weak transcription	Pancreas	Pancrea
30	chr12:120908600-120927200	Weak transcription	Fetal Brain Female	brain
31	chr12:120908600-120928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:120908600-120928600	Weak transcription	Spleen	Spleen
33	chr12:120908600-120928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:120908600-120932800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:120908600-120932800	Weak transcription	Adipose Nuclei	Adipose
36	chr12:120908600-120932800	Weak transcription	Brain Germinal Matrix	brain
37	chr12:120908600-120932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:120908600-120933000	Weak transcription	Thymus	Thymus
39	chr12:120908800-120917400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:120908800-120926000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:120908800-120928400	Weak transcription	Primary T cells from cord blood	blood
42	chr12:120909000-120912400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:120909200-120914200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:120909200-120919400	Weak transcription	Fetal Stomach	stomach
45	chr12:120909200-120919600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:120909400-120912400	Weak transcription	Stomach Mucosa	stomach
47	chr12:120909600-120913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:120910400-120913800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:120910600-120913200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:120910600-120917400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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