Variant report

Variant	rs73554461
Chromosome Location	chr6:133139087-133139088
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133139023..133140882-chr6:133238687..133240373,2	MCF-7	breast:
2	chr6:132935279..132937061-chr6:133139072..133141964,2	K562	blood:
3	chr6:133139056..133141484-chr6:133198427..133200409,2	MCF-7	breast:
4	chr6:133054032..133057251-chr6:133136548..133139421,3	K562	blood:
5	chr19:12885475..12887158-chr6:133138358..133141147,2	K562	blood:
6	chr17:40214097..40215598-chr6:133136759..133139699,2	K562	blood:
7	chr6:132855902..132859597-chr6:133135974..133139810,3	K562	blood:

Variant related genes	Relation type
ENSG00000237110	Chromatin interaction
ENSG00000187595	Chromatin interaction
ENSG00000093134	Chromatin interaction
ENSG00000095066	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1122175	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11965927	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34688576	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34934410	0.91[ASN][1000 genomes]
rs35148730	0.91[ASN][1000 genomes]
rs3736725	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756971	0.91[ASN][1000 genomes]
rs41286184	0.91[ASN][1000 genomes]
rs56825762	0.87[EUR][1000 genomes]
rs56908272	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57176306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58949949	0.91[ASN][1000 genomes]
rs59357932	1.00[ASN][1000 genomes]
rs59716502	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59718818	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60133731	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60177375	1.00[ASN][1000 genomes]
rs60631157	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61310652	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569851	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569852	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6905784	0.91[ASN][1000 genomes]
rs6911773	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6924403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926101	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6927991	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6928237	0.91[ASN][1000 genomes]
rs6928933	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6930549	0.91[ASN][1000 genomes]
rs6930703	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6934155	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6934190	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73547611	0.91[ASN][1000 genomes]
rs73550455	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73558375	1.00[ASN][1000 genomes]
rs73558378	1.00[ASN][1000 genomes]
rs73558387	1.00[ASN][1000 genomes]
rs7738256	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7738569	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7744961	0.87[EUR][1000 genomes]
rs7747544	0.91[ASN][1000 genomes]
rs7748090	1.00[ASN][1000 genomes]
rs7753595	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7759524	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7761207	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7762248	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7769354	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775241	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321369	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321370	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321375	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483501	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9483502	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493434	0.91[ASN][1000 genomes]
rs9493440	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493441	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493447	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493455	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493457	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9766095	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9767075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133136000-133139200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
2	chr6:133136000-133139200	Transcr. at gene 5' and 3'	K562	blood
3	chr6:133136000-133139800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:133136200-133139400	Transcr. at gene 5' and 3'	A549	lung
5	chr6:133136200-133140600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr6:133137000-133139200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:133137200-133145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:133137400-133139600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:133137400-133141000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:133137400-133141000	Strong transcription	Aorta	Aorta
11	chr6:133137400-133141200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:133137400-133141400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr6:133137600-133139600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr6:133137600-133140000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:133137600-133141200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:133137800-133139600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:133137800-133139600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:133137800-133139600	Strong transcription	Esophagus	oesophagus
19	chr6:133137800-133139600	Genic enhancers	HSMM	muscle
20	chr6:133137800-133140200	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr6:133137800-133140600	Strong transcription	Pancreas	Pancrea
22	chr6:133137800-133140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:133137800-133141000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:133137800-133141200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:133137800-133141200	Strong transcription	Placenta	Placenta
26	chr6:133137800-133141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:133137800-133141400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:133137800-133141600	Strong transcription	Fetal Thymus	thymus
29	chr6:133137800-133142200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:133137800-133142400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:133137800-133142400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr6:133137800-133143600	Weak transcription	Right Atrium	heart
33	chr6:133138000-133139200	Genic enhancers	Adipose Nuclei	Adipose
34	chr6:133138000-133139400	Strong transcription	Fetal Brain Male	brain
35	chr6:133138000-133139600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:133138000-133139600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:133138000-133140200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:133138000-133140200	Strong transcription	Left Ventricle	heart
39	chr6:133138000-133140400	Weak transcription	Small Intestine	intestine
40	chr6:133138000-133140400	Genic enhancers	NHDF-Ad	bronchial
41	chr6:133138000-133140600	Strong transcription	Brain Angular Gyrus	brain
42	chr6:133138000-133140600	Strong transcription	Brain Hippocampus Middle	brain
43	chr6:133138000-133140800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr6:133138000-133140800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:133138000-133140800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:133138000-133140800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:133138000-133140800	Strong transcription	Brain Substantia Nigra	brain
48	chr6:133138000-133141000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:133138000-133141000	Strong transcription	Brain Anterior Caudate	brain
50	chr6:133138000-133141000	Strong transcription	Rectal Mucosa Donor 31	rectum

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