Variant report

Variant	rs73362530
Chromosome Location	chr6:4794268-4794269
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4780165..4781878-chr6:4793453..4796375,2	MCF-7	breast:
2	chr6:4773227..4775902-chr6:4794032..4796100,3	K562	blood:
3	chr6:4784617..4786849-chr6:4792475..4794653,2	K562	blood:
4	chr6:4788250..4792483-chr6:4794003..4797255,3	MCF-7	breast:
5	chr6:4789235..4792155-chr6:4793481..4795463,2	MCF-7	breast:
6	chr6:4792198..4795209-chr6:4799398..4802329,4	K562	blood:
7	chr6:4776600..4778959-chr6:4792852..4796452,3	K562	blood:
8	chr6:4775173..4778189-chr6:4793208..4796726,4	MCF-7	breast:
9	chr6:4773227..4775902-chr6:4794032..4797060,3	K562	blood:
10	chr6:4794008..4795795-chr6:4859936..4861465,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1557032	1.00[EUR][1000 genomes]
rs17138859	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17138931	1.00[EUR][1000 genomes]
rs17138959	0.87[EUR][1000 genomes]
rs17138966	0.87[EUR][1000 genomes]
rs2235429	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4376391	1.00[EUR][1000 genomes]
rs56278978	1.00[EUR][1000 genomes]
rs58368827	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60609172	1.00[EUR][1000 genomes]
rs60949901	1.00[EUR][1000 genomes]
rs61278797	1.00[EUR][1000 genomes]
rs6916304	1.00[EUR][1000 genomes]
rs6916467	1.00[EUR][1000 genomes]
rs6919412	1.00[EUR][1000 genomes]
rs73348319	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73348345	1.00[EUR][1000 genomes]
rs73348361	1.00[EUR][1000 genomes]
rs73362564	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73364523	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73364567	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73364571	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7743735	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7768749	1.00[EUR][1000 genomes]
rs811251	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947151	1.00[EUR][1000 genomes]
rs9502239	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9502244	0.89[EUR][1000 genomes]
rs9502247	1.00[EUR][1000 genomes]
rs9502248	1.00[EUR][1000 genomes]
rs9502249	1.00[EUR][1000 genomes]
rs9502251	0.87[EUR][1000 genomes]
rs9504262	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9504267	0.85[ASN][1000 genomes]
rs9504269	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504270	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9504271	1.00[EUR][1000 genomes]
rs9504275	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9504276	1.00[EUR][1000 genomes]
rs9504281	1.00[EUR][1000 genomes]
rs9504284	1.00[EUR][1000 genomes]
rs9504286	1.00[EUR][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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4781400-4794400	Weak transcription	NHLF	lung
2	chr6:4781600-4797800	Weak transcription	Hela-S3	cervix
3	chr6:4782000-4794400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:4782000-4797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:4785400-4794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:4787200-4794400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
8	chr6:4787600-4794400	Weak transcription	NHEK	skin
9	chr6:4789800-4794400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:4789800-4794400	Weak transcription	Esophagus	oesophagus
11	chr6:4790000-4794400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:4790000-4799800	Weak transcription	Ovary	ovary
13	chr6:4790200-4794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:4790200-4794400	Weak transcription	Gastric	stomach
15	chr6:4790200-4803200	Weak transcription	Pancreas	Pancrea
16	chr6:4790400-4794400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:4790400-4794400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:4790600-4794400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:4790600-4801600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:4790800-4794400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:4790800-4801200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:4790800-4801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:4791000-4794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:4791000-4795600	Weak transcription	Primary B cells from cord blood	blood
25	chr6:4791000-4795600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:4791000-4797200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:4791200-4795800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:4791800-4794400	Weak transcription	Brain Substantia Nigra	brain
29	chr6:4791800-4794400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:4791800-4794600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:4791800-4797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:4792000-4794400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:4792000-4794400	Weak transcription	HepG2	liver
34	chr6:4792000-4794600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:4792200-4797600	Weak transcription	NH-A	brain
36	chr6:4792800-4795000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:4792800-4795000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:4793000-4795000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:4793200-4794400	Enhancers	K562	blood
40	chr6:4793200-4795200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:4793400-4794400	Enhancers	A549	lung
42	chr6:4793400-4795000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:4793400-4795000	Enhancers	Left Ventricle	heart
44	chr6:4793400-4795000	Enhancers	Lung	lung
45	chr6:4793400-4795000	Enhancers	Right Atrium	heart
46	chr6:4793400-4795000	Enhancers	Right Ventricle	heart
47	chr6:4793400-4795200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:4793600-4799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:4793800-4794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:4793800-4794800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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