Variant report

Variant	rs12134846
Chromosome Location	chr1:193052528-193052529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193029708..193031571-chr1:193052459..193054215,2	K562	blood:
2	chr1:193049610..193054263-chr1:193056319..193061056,6	K562	blood:
3	chr1:193052100..193054101-chr1:193055616..193057819,2	K562	blood:
4	chr1:193051402..193053368-chr1:193070882..193073631,3	K562	blood:
5	chr1:193043234..193047012-chr1:193048456..193052530,5	K562	blood:
6	chr1:193051806..193058060-chr1:193058254..193062557,7	K562	blood:
7	chr1:193051440..193054344-chr1:193059931..193061657,2	MCF-7	breast:
8	chr1:193050181..193054002-chr1:193074139..193076393,3	MCF-7	breast:
9	chr1:193047378..193050002-chr1:193051106..193053870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272579	Chromatin interaction
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489686	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10494675	1.00[CEU][hapmap]
rs10801170	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10801186	1.00[CEU][hapmap]
rs10921331	1.00[CEU][hapmap]
rs12118724	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap]
rs12122868	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12123511	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123750	1.00[CEU][hapmap]
rs12123970	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12129832	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12132305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12135670	1.00[CEU][hapmap]
rs12136893	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12145101	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs1325196	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17526825	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17592121	1.00[CEU][hapmap]
rs17593120	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2887640	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28930673	1.00[CEU][hapmap]
rs28930674	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs35221108	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56022114	0.91[EUR][1000 genomes]
rs6670264	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap]
rs72738588	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72738589	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72738599	0.96[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:124 , 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	chr1:193043800-193054200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:193044000-193055800	Strong transcription	Fetal Lung	lung
4	chr1:193044600-193054000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:193044800-193056000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:193045000-193054600	Strong transcription	Placenta	Placenta
8	chr1:193045000-193055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:193045000-193055400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:193045000-193055600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:193045000-193055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:193045200-193055200	Strong transcription	HSMM	muscle
13	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:193045400-193055600	Strong transcription	NH-A	brain
15	chr1:193045400-193056800	Strong transcription	NHDF-Ad	bronchial
16	chr1:193045600-193054800	Strong transcription	Fetal Thymus	thymus
17	chr1:193045800-193054200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:193045800-193055400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:193045800-193055600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:193045800-193055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:193045800-193055800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:193045800-193055800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:193045800-193056000	Strong transcription	Dnd41	blood
24	chr1:193045800-193056200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:193046000-193054000	Strong transcription	Fetal Intestine Large	intestine
26	chr1:193046000-193054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:193046000-193054400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:193046000-193055200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:193046000-193055600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:193046000-193056000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:193046200-193052800	Strong transcription	Fetal Kidney	kidney
32	chr1:193046400-193053000	Strong transcription	HSMMtube	muscle
33	chr1:193046400-193054400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:193046400-193055600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:193046400-193055600	Strong transcription	Colon Smooth Muscle	Colon
36	chr1:193046400-193055600	Strong transcription	HUVEC	blood vessel
37	chr1:193046400-193056200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:193047000-193054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:193047000-193055400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:193047000-193059000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
43	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
44	chr1:193047400-193054400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:193047600-193054800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:193047600-193054800	Strong transcription	Liver	Liver
48	chr1:193047600-193056800	Strong transcription	Osteobl	bone
49	chr1:193047600-193059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:193047800-193054600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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