Variant report

Variant	rs12136893
Chromosome Location	chr1:193054769-193054770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193040629..193042216-chr1:193054766..193056818,2	MCF-7	breast:
2	chr1:193036534..193039391-chr1:193053045..193055272,2	K562	blood:
3	chr1:193021502..193024207-chr1:193053848..193055702,2	K562	blood:
4	chr1:193054112..193056776-chr1:193063002..193065474,2	K562	blood:
5	chr1:193051806..193058060-chr1:193058254..193062557,7	K562	blood:
6	chr1:193046427..193048630-chr1:193054285..193055825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116747	Chromatin interaction
ENSG00000272579	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10489686	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10801170	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12118724	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123511	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123970	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12129832	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12132305	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12134846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2887640	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35221108	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56022114	0.91[EUR][1000 genomes]
rs6670264	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72738588	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72738589	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72738599	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7544830	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193044000-193055800	Strong transcription	Fetal Lung	lung
3	chr1:193044800-193056000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:193045000-193055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:193045000-193055400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:193045000-193055600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:193045000-193055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:193045200-193055200	Strong transcription	HSMM	muscle
10	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:193045400-193055600	Strong transcription	NH-A	brain
12	chr1:193045400-193056800	Strong transcription	NHDF-Ad	bronchial
13	chr1:193045600-193054800	Strong transcription	Fetal Thymus	thymus
14	chr1:193045800-193055400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:193045800-193055600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:193045800-193055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:193045800-193055800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:193045800-193055800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:193045800-193056000	Strong transcription	Dnd41	blood
20	chr1:193045800-193056200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:193046000-193055200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:193046000-193055600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:193046000-193056000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:193046400-193055600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:193046400-193055600	Strong transcription	Colon Smooth Muscle	Colon
26	chr1:193046400-193055600	Strong transcription	HUVEC	blood vessel
27	chr1:193046400-193056200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:193047000-193055400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:193047000-193059000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
32	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
33	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:193047600-193054800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr1:193047600-193054800	Strong transcription	Liver	Liver
36	chr1:193047600-193056800	Strong transcription	Osteobl	bone
37	chr1:193047600-193059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:193047800-193054800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:193047800-193055600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:193048200-193056200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:193048200-193056600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
43	chr1:193048400-193055600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:193048600-193055000	Strong transcription	Brain Germinal Matrix	brain
45	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
46	chr1:193048800-193055600	Strong transcription	K562	blood
47	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:193050000-193061600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:193050400-193055400	Strong transcription	Adipose Nuclei	Adipose
50	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart

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