Variant report

Variant	rs62070448
Chromosome Location	chr17:64457283-64457284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:64295828..64299749-chr17:64456387..64460911,5	MCF-7	breast:
2	chr17:64414115..64416625-chr17:64456943..64458482,2	MCF-7	breast:
3	chr17:64456983..64459280-chr17:64543047..64544727,2	K562	blood:
4	chr17:64451906..64454145-chr17:64456195..64457950,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154229	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11869711	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17771145	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860659	0.92[ASN][1000 genomes]
rs34488708	0.92[ASN][1000 genomes]
rs57037655	0.86[EUR][1000 genomes]
rs57078491	0.89[EUR][1000 genomes]
rs57178647	0.92[ASN][1000 genomes]
rs58134548	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59920126	0.92[ASN][1000 genomes]
rs60283766	0.92[ASN][1000 genomes]
rs62070449	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070451	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070454	0.92[ASN][1000 genomes]
rs62070455	0.92[ASN][1000 genomes]
rs62070456	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7207499	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061581	chr17:64389183-64477328	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1057876	chr17:64401469-64802341	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv543407	chr17:64401469-64802341	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1064970	chr17:64410784-64486268	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457882	chr17:64410915-64471675	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv575896	chr17:64410915-64471675	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv457883	chr17:64410915-64510410	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv575897	chr17:64410915-64510410	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv457887	chr17:64410915-64518507	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv575898	chr17:64410915-64518507	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1062365	chr17:64411424-64482886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv543408	chr17:64411424-64482886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv817351	chr17:64420296-64742555	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv948353	chr17:64454960-64619767	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv948335	chr17:64454960-64745690	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:64429200-64463000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:64436400-64462000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:64439000-64457600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:64439200-64459000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:64441200-64457400	Weak transcription	K562	blood
6	chr17:64446600-64459000	Weak transcription	Gastric	stomach
7	chr17:64446600-64463200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:64446800-64459000	Weak transcription	Pancreas	Pancrea
9	chr17:64447000-64458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:64447200-64460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:64448200-64457400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:64448200-64464600	Weak transcription	Colonic Mucosa	Colon
13	chr17:64448400-64462200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:64448600-64458200	Weak transcription	Small Intestine	intestine
15	chr17:64449400-64462400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr17:64450200-64459000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:64451200-64458000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:64451400-64463000	Weak transcription	Ovary	ovary
19	chr17:64451800-64463000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:64453600-64460200	Weak transcription	Dnd41	blood
21	chr17:64454800-64460000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:64455200-64460000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:64455400-64457600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:64455400-64459400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:64455400-64459400	Enhancers	HSMMtube	muscle
26	chr17:64455400-64460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:64455400-64460400	Enhancers	Osteobl	bone
28	chr17:64455400-64463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:64455600-64457400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:64455600-64458400	Enhancers	Liver	Liver
31	chr17:64455600-64459400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:64455600-64459400	Enhancers	Brain Anterior Caudate	brain
33	chr17:64455600-64459800	Enhancers	NHEK	skin
34	chr17:64455600-64460000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:64455800-64458200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:64455800-64459200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr17:64455800-64462400	Enhancers	NHDF-Ad	bronchial
38	chr17:64456000-64457600	Enhancers	Placenta	Placenta
39	chr17:64456000-64459400	Enhancers	Brain Cingulate Gyrus	brain
40	chr17:64456000-64460000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr17:64456200-64459400	Enhancers	Brain Hippocampus Middle	brain
42	chr17:64456400-64458800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr17:64456400-64459000	Weak transcription	Fetal Brain Male	brain
44	chr17:64456400-64459000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:64456400-64459400	Enhancers	Brain Substantia Nigra	brain
46	chr17:64456400-64459600	Enhancers	HepG2	liver
47	chr17:64456400-64460200	Enhancers	Stomach Mucosa	stomach
48	chr17:64456600-64457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:64456600-64458200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:64456800-64457400	Enhancers	Fetal Muscle Trunk	muscle

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