Variant report

Variant	rs733259
Chromosome Location	chr6:119469948-119469949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119450270..119451239-chr6:119468206..119470213,5	MCF-7	breast:
2	chr6:119256106..119257947-chr6:119468580..119471034,2	K562	blood:
3	chr6:119467858..119470789-chr6:119668770..119672252,3	K562	blood:
4	chr6:119214272..119216553-chr6:119469883..119471782,2	K562	blood:
5	chr6:119467902..119470326-chr6:119670828..119672747,2	MCF-7	breast:
6	chr6:119284318..119286217-chr6:119469822..119472613,2	K562	blood:

Variant related genes	Relation type
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12190611	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891540	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608541	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611211	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624829	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs638368	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656012	0.96[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs666655	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs678974	0.87[EUR][1000 genomes]
rs682949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683488	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6910397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928078	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935092	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706981	0.80[CEU][hapmap]
rs733260	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398502	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398503	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401129	0.80[CEU][hapmap]
rs9401130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119457000-119474800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:119466200-119470200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:119466800-119470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:119467600-119470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:119467600-119470200	Enhancers	Hela-S3	cervix
6	chr6:119467800-119470200	Enhancers	Stomach Mucosa	stomach
7	chr6:119467800-119470600	Enhancers	NHLF	lung
8	chr6:119467800-119470800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:119467800-119470800	Enhancers	HMEC	breast
10	chr6:119468000-119470200	Enhancers	Left Ventricle	heart
11	chr6:119468000-119470200	Enhancers	HSMMtube	muscle
12	chr6:119468200-119470200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:119468400-119470000	Enhancers	Small Intestine	intestine
14	chr6:119468600-119470000	Enhancers	Fetal Stomach	stomach
15	chr6:119468600-119470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:119468600-119470800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:119468800-119470000	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:119468800-119470200	Enhancers	Aorta	Aorta
19	chr6:119468800-119470200	Enhancers	Colon Smooth Muscle	Colon
20	chr6:119468800-119470200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr6:119468800-119470400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:119468800-119470600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:119468800-119470600	Flanking Active TSS	Osteobl	bone
24	chr6:119468800-119470800	Enhancers	Pancreas	Pancrea
25	chr6:119469000-119470000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:119469000-119470600	Enhancers	HepG2	liver
27	chr6:119469000-119472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:119469400-119470000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:119469400-119470200	Enhancers	Right Ventricle	heart
30	chr6:119469400-119470400	Enhancers	Fetal Lung	lung
31	chr6:119469600-119470000	Enhancers	Brain Substantia Nigra	brain
32	chr6:119469600-119470200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:119469600-119470200	Active TSS	Brain Anterior Caudate	brain
34	chr6:119469600-119470400	Flanking Active TSS	NHEK	skin
35	chr6:119469600-119470600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:119469600-119470600	Flanking Active TSS	NH-A	brain
37	chr6:119469600-119471000	Enhancers	K562	blood
38	chr6:119469800-119470000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:119469800-119470000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:119469800-119470000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:119469800-119470000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:119469800-119470000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:119469800-119470000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:119469800-119470000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:119469800-119470000	Enhancers	NHDF-Ad	bronchial
46	chr6:119469800-119470200	Flanking Active TSS	Fetal Brain Male	brain
47	chr6:119469800-119470400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:119469800-119470400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:119469800-119470400	Active TSS	Brain Cingulate Gyrus	brain
50	chr6:119469800-119470400	Active TSS	Brain Hippocampus Middle	brain

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