Variant report

Variant	rs12194036
Chromosome Location	chr6:26577453-26577454
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26215403..26219104-chr6:26575436..26578957,4	K562	blood:
2	chr6:26575145..26580691-chr6:26582301..26587887,10	K562	blood:
3	chr6:26216001..26219242-chr6:26574102..26578957,5	K562	blood:
4	chr6:26327970..26330676-chr6:26575820..26578738,2	K562	blood:
5	chr6:26575403..26577801-chr6:26599976..26601665,3	K562	blood:
6	chr6:26576709..26579469-chr6:26595010..26597747,2	MCF-7	breast:
7	chr6:26575952..26578920-chr6:26582301..26585861,4	K562	blood:
8	chr6:26566413..26579648-chr6:26592370..26599609,38	K562	blood:
9	chr6:26520128..26522932-chr6:26576156..26579285,4	K562	blood:
10	chr6:26308793..26311615-chr6:26576648..26578287,2	K562	blood:
11	chr6:26575954..26578514-chr6:27111915..27114661,2	K562	blood:
12	chr6:26576158..26578683-chr6:27099793..27101418,3	K562	blood:
13	chr6:26535611..26540047-chr6:26576394..26579600,4	K562	blood:
14	chr6:26285889..26287811-chr6:26576369..26578960,2	K562	blood:
15	chr6:26541729..26543411-chr6:26576160..26577936,2	K562	blood:
16	chr6:26568033..26580216-chr6:26588796..26603066,49	K562	blood:
17	chr6:26402744..26404382-chr6:26575217..26577628,2	K562	blood:
18	chr6:26536620..26538867-chr6:26576288..26578360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182952	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000187990	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10447390	0.81[CEU][hapmap]
rs10447391	0.81[CEU][hapmap]
rs10456047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10456331	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10484441	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10807008	1.00[CEU][hapmap]
rs10946820	0.81[CEU][hapmap]
rs10946821	0.81[CEU][hapmap]
rs10946823	0.86[CEU][hapmap]
rs10946824	0.86[CEU][hapmap]
rs10946825	0.85[CEU][hapmap]
rs10946826	0.86[CEU][hapmap]
rs10946827	0.81[CEU][hapmap]
rs10946829	0.86[CEU][hapmap]
rs10946832	1.00[CEU][hapmap]
rs10946842	1.00[JPT][hapmap]
rs1131936	0.93[CEU][hapmap]
rs12191917	0.86[CEU][hapmap]
rs12193283	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12194001	0.83[CEU][hapmap]
rs12194073	0.81[CEU][hapmap]
rs12196371	1.00[CEU][hapmap]
rs12197304	0.80[EUR][1000 genomes]
rs12198993	0.81[CEU][hapmap]
rs12201546	0.86[CEU][hapmap]
rs12205310	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12206812	0.86[CEU][hapmap]
rs12207930	0.86[CEU][hapmap]
rs12208211	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12208272	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12208788	0.93[CEU][hapmap]
rs12211872	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12214444	1.00[CEU][hapmap]
rs12214486	0.81[CEU][hapmap]
rs12214924	0.86[CEU][hapmap]
rs12661560	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12664899	0.93[CEU][hapmap]
rs17537465	0.93[CEU][hapmap]
rs17539219	0.86[CEU][hapmap]
rs17610161	1.00[CEU][hapmap]
rs17611220	0.81[CEU][hapmap]
rs17611438	0.85[CEU][hapmap]
rs1884945	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2393652	0.86[CEU][hapmap]
rs2393664	0.81[CEU][hapmap]
rs2893845	0.86[CEU][hapmap]
rs2893847	0.86[CEU][hapmap]
rs2893848	0.86[CEU][hapmap]
rs2893849	0.93[CEU][hapmap]
rs2893856	0.93[CEU][hapmap]
rs2893857	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3208734	0.81[CEU][hapmap]
rs3757143	1.00[YRI][hapmap]
rs3846843	0.86[CEU][hapmap]
rs3846844	0.86[CEU][hapmap]
rs3846847	0.81[CEU][hapmap]
rs3846848	0.86[CEU][hapmap]
rs3846849	0.81[CEU][hapmap]
rs3902051	0.93[CEU][hapmap]
rs4083469	0.81[CEU][hapmap]
rs4609015	0.86[CEU][hapmap]
rs4711108	1.00[CEU][hapmap]
rs4711109	0.81[CEU][hapmap]
rs4711110	1.00[CEU][hapmap]
rs4711111	0.81[CEU][hapmap]
rs4712986	0.93[CEU][hapmap]
rs4712988	0.93[CEU][hapmap]
rs4712990	1.00[CEU][hapmap]
rs4712993	0.86[CEU][hapmap]
rs4712994	0.86[CEU][hapmap]
rs4712996	0.86[CEU][hapmap]
rs4712999	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs4713000	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs4713001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713011	1.00[JPT][hapmap]
rs56034653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6456724	0.93[CEU][hapmap]
rs6900725	0.86[CEU][hapmap]
rs6910023	0.86[CEU][hapmap]
rs6912934	0.93[CEU][hapmap]
rs6920986	0.86[CEU][hapmap]
rs6926878	0.86[CEU][hapmap]
rs6928454	0.81[CEU][hapmap]
rs6929846	0.86[CEU][hapmap]
rs72843766	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7355	0.93[CEU][hapmap]
rs7356849	0.93[CEU][hapmap]
rs7744254	0.86[CEU][hapmap]
rs7745238	0.81[CEU][hapmap]
rs7745767	0.81[CEU][hapmap]
rs7751280	0.86[CEU][hapmap]
rs7768108	1.00[CEU][hapmap]
rs7770214	0.86[CEU][hapmap]
rs882010	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9295690	0.81[CEU][hapmap]
rs9393736	0.85[ASN][1000 genomes]
rs9467759	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26569600-26577600	Weak transcription	Spleen	Spleen
2	chr6:26573000-26577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26575600-26578600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:26575800-26578200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:26575800-26578400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:26575800-26578400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:26575800-26578400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:26575800-26578600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:26575800-26578600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:26576000-26578200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:26576000-26578200	Active TSS	A549	lung
12	chr6:26576600-26577600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:26576600-26577800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:26576600-26578000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:26576600-26578000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:26576600-26578000	Flanking Active TSS	NHEK	skin
17	chr6:26576600-26578200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:26576600-26578200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:26576600-26578400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:26576800-26577600	Active TSS	Brain Angular Gyrus	brain
21	chr6:26576800-26577600	Active TSS	Psoas Muscle	Psoas
22	chr6:26576800-26577800	Active TSS	Brain Anterior Caudate	brain
23	chr6:26576800-26577800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr6:26576800-26577800	Active TSS	Right Atrium	heart
25	chr6:26576800-26578000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:26576800-26578000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr6:26576800-26578000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:26576800-26578000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr6:26576800-26578000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:26576800-26578000	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr6:26576800-26578000	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:26576800-26578000	Active TSS	NH-A	brain
33	chr6:26576800-26578200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:26576800-26578200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:26576800-26578200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:26576800-26578200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:26576800-26578200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:26576800-26578200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:26576800-26578200	Active TSS	NHLF	lung
40	chr6:26576800-26578400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:26576800-26578800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:26577000-26577600	Active TSS	HMEC	breast
43	chr6:26577000-26577800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr6:26577000-26578000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr6:26577000-26578000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr6:26577000-26578200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:26577000-26578200	Active TSS	Hela-S3	cervix
48	chr6:26577200-26577600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr6:26577200-26577600	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr6:26577200-26577600	Active TSS	Ovary	ovary

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