Variant report

Variant	rs12431173
Chromosome Location	chr13:52166143-52166144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52165459..52167828-chr13:52169558..52171705,2	K562	blood:
2	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:
3	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
4	chr13:52163928..52166690-chr13:52169600..52171237,2	MCF-7	breast:
5	chr13:52165298..52167854-chr13:52172353..52174094,2	K562	blood:
6	chr13:52157062..52162024-chr13:52162079..52168293,13	MCF-7	breast:
7	chr13:52023783..52027256-chr13:52163004..52167854,10	K562	blood:

Variant related genes	Relation type
ENSG00000139668	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000206920	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000224451	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12428478	0.89[AMR][1000 genomes]
rs12430506	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12430760	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17069413	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17075849	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17531181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291282	0.81[AMR][1000 genomes]
rs73199739	0.89[AMR][1000 genomes]
rs73199742	0.88[AMR][1000 genomes]
rs7321346	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74086223	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8001480	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9596530	0.81[EUR][1000 genomes]

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52159600-52170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:52159600-52174600	Weak transcription	Spleen	Spleen
3	chr13:52160200-52166600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:52160200-52168000	Weak transcription	Pancreas	Pancrea
5	chr13:52160200-52170800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:52160200-52181400	Weak transcription	Thymus	Thymus
7	chr13:52160400-52173400	Weak transcription	Right Atrium	heart
8	chr13:52160400-52177000	Weak transcription	Right Ventricle	heart
9	chr13:52160600-52169400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr13:52160600-52172200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:52160800-52166200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:52160800-52166200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:52160800-52168000	Weak transcription	Primary T cells from cord blood	blood
14	chr13:52161400-52167000	Weak transcription	Primary B cells from cord blood	blood
15	chr13:52161400-52167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr13:52161400-52168800	Weak transcription	Fetal Brain Female	brain
17	chr13:52161600-52166200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:52162000-52166200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:52162200-52166200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:52162200-52166200	Enhancers	Brain Anterior Caudate	brain
21	chr13:52162800-52180200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:52163000-52166200	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:52163000-52166400	Enhancers	Hela-S3	cervix
24	chr13:52163000-52170400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:52163200-52182600	Weak transcription	Ovary	ovary
26	chr13:52163600-52166200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:52163600-52166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:52163800-52166200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:52164000-52166200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:52164200-52166200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:52164200-52166200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:52164200-52166200	Enhancers	Liver	Liver
33	chr13:52164200-52169200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:52164600-52166200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:52164600-52166200	Enhancers	Fetal Heart	heart
36	chr13:52165000-52166200	Enhancers	Fetal Muscle Leg	muscle
37	chr13:52165000-52166200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr13:52165000-52166200	Flanking Active TSS	HSMMtube	muscle
39	chr13:52165000-52166400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:52165200-52166200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:52165200-52166200	Enhancers	Placenta	Placenta
42	chr13:52165200-52166200	Enhancers	Left Ventricle	heart
43	chr13:52165400-52166200	Flanking Active TSS	A549	lung
44	chr13:52165400-52168800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:52165400-52169200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:52165400-52169200	Weak transcription	Esophagus	oesophagus
47	chr13:52165400-52169200	Weak transcription	Gastric	stomach
48	chr13:52165400-52174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:52165600-52166200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:52165600-52166200	Flanking Active TSS	NHDF-Ad	bronchial

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