Variant report

Variant	rs13204975
Chromosome Location	chr6:33657494-33657495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33587314..33592159-chr6:33656861..33661736,6	K562	blood:
2	chr6:33648020..33651730-chr6:33656230..33658624,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10456075	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10947426	0.87[AFR][1000 genomes]
rs10947432	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12153870	0.87[AFR][1000 genomes]
rs12189725	0.85[ASN][1000 genomes]
rs12190155	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195707	0.87[AFR][1000 genomes]
rs12199132	0.85[ASN][1000 genomes]
rs12203688	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12205398	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12205667	0.87[AFR][1000 genomes]
rs12661400	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13204162	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13207666	0.85[ASN][1000 genomes]
rs13214874	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13220421	0.87[AFR][1000 genomes]
rs2281831	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281917	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281918	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281919	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296737	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34139049	0.82[ASN][1000 genomes]
rs34517899	0.87[AFR][1000 genomes]
rs34778247	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35088242	0.87[AFR][1000 genomes]
rs35095444	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35274562	0.82[ASN][1000 genomes]
rs35646598	0.82[ASN][1000 genomes]
rs35698850	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36097803	0.87[AFR][1000 genomes]
rs3818526	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818532	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs729376	0.85[ASN][1000 genomes]
rs877187	0.85[ASN][1000 genomes]
rs9296097	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469554	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885771	chr6:33626717-33660143	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
2	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
3	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
4	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:33621400-33672600	Strong transcription	Dnd41	blood
8	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr6:33631800-33661200	Weak transcription	Liver	Liver
14	chr6:33636600-33660600	Strong transcription	Colonic Mucosa	Colon
15	chr6:33636800-33660200	Strong transcription	Lung	lung
16	chr6:33636800-33661400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:33637400-33661600	Strong transcription	Esophagus	oesophagus
18	chr6:33638200-33659200	Weak transcription	Right Atrium	heart
19	chr6:33639600-33659200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:33640000-33669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:33641000-33667800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:33641200-33658600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:33641200-33659600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr6:33641200-33661600	Strong transcription	NHEK	skin
25	chr6:33641400-33659200	Strong transcription	HMEC	breast
26	chr6:33641400-33660200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:33641400-33668000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:33641800-33661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:33642400-33659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:33642400-33660600	Weak transcription	Brain Germinal Matrix	brain
31	chr6:33643800-33659800	Strong transcription	Adipose Nuclei	Adipose
32	chr6:33644000-33659400	Weak transcription	HSMMtube	muscle
33	chr6:33644000-33660600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:33644000-33662000	Weak transcription	Fetal Kidney	kidney
35	chr6:33644600-33659600	Strong transcription	Gastric	stomach
36	chr6:33645400-33659400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:33645600-33659400	Strong transcription	NHLF	lung
38	chr6:33645800-33659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:33645800-33659800	Strong transcription	Fetal Stomach	stomach
40	chr6:33646000-33660400	Weak transcription	HUVEC	blood vessel
41	chr6:33647200-33659800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:33649600-33659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:33649600-33660600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:33649800-33661400	Strong transcription	Pancreas	Pancrea
45	chr6:33650000-33657600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:33650200-33660400	Strong transcription	Placenta	Placenta
47	chr6:33650400-33669000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:33650600-33668000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:33651000-33657600	Strong transcription	Right Ventricle	heart
50	chr6:33651600-33657800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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