Variant report

Variant	rs58593410
Chromosome Location	chr2:191218446-191218447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr2:191218232-191218475	K562	blood:	n/a	n/a
2	RCOR1	chr2:191217469-191218608	K562	blood:	n/a	n/a
3	RCOR1	chr2:191218248-191218448	K562	blood:	n/a	n/a
4	FOXA2	chr2:191216923-191218922	HepG2	liver:	n/a	n/a
5	TEAD4	chr2:191217309-191218455	HepG2	liver:	n/a	n/a
6	MAX	chr2:191217167-191218511	HepG2	liver:	n/a	n/a
7	EP300	chr2:191218276-191218481	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:
2	chr2:191217832..191219437-chr2:191221775..191223473,2	MCF-7	breast:
3	chr2:191212674..191214440-chr2:191216192..191218730,2	MCF-7	breast:
4	chr2:191212374..191214563-chr2:191217575..191219324,2	K562	blood:
5	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:

No data

Variant related genes	Relation type
INPP1	TF binding region

rs_ID	r²[population]
rs13411353	1.00[AMR][1000 genomes]
rs55706833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927088	0.85[AFR][1000 genomes]
rs56082128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59822230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707066	0.82[AFR][1000 genomes]
rs73979204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981039	0.82[AFR][1000 genomes]
rs73981048	0.85[AFR][1000 genomes]
rs73981063	0.93[AFR][1000 genomes]
rs73981064	0.85[AFR][1000 genomes]
rs73981065	0.93[AFR][1000 genomes]
rs73981067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981068	0.85[AFR][1000 genomes]
rs73981069	0.85[AFR][1000 genomes]
rs73981071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981079	0.85[AFR][1000 genomes]

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
2	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
4	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191209800-191224600	Weak transcription	NH-A	brain
8	chr2:191210000-191218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:191210000-191223600	Weak transcription	Osteobl	bone
12	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:191210400-191223400	Weak transcription	NHLF	lung
14	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
16	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
17	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
19	chr2:191214800-191218600	Enhancers	Brain Anterior Caudate	brain
20	chr2:191214800-191219600	Enhancers	Brain Substantia Nigra	brain
21	chr2:191215400-191220800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:191216200-191219600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:191216400-191219800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:191216600-191218800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:191216600-191218800	Enhancers	Brain Hippocampus Middle	brain
26	chr2:191216600-191220200	Enhancers	Liver	Liver
27	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
28	chr2:191216800-191218600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:191216800-191218800	Enhancers	Fetal Intestine Large	intestine
30	chr2:191216800-191219600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:191216800-191219600	Enhancers	NHEK	skin
32	chr2:191216800-191220400	Enhancers	Brain Angular Gyrus	brain
33	chr2:191216800-191221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:191216800-191224600	Enhancers	HMEC	breast
36	chr2:191217000-191219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:191217200-191220200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:191217200-191220800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:191217200-191224200	Weak transcription	HSMM	muscle
40	chr2:191217400-191218600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:191217400-191218800	Enhancers	Colon Smooth Muscle	Colon
42	chr2:191217400-191219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:191217400-191220800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:191217600-191222800	Enhancers	Fetal Intestine Small	intestine
45	chr2:191217800-191219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:191217800-191219200	Weak transcription	Gastric	stomach
47	chr2:191217800-191219600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:191217800-191220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:191217800-191220800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:191217800-191221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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