Variant report

Variant	rs62070451
Chromosome Location	chr17:64468166-64468167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:64461203..64465974-chr17:64466102..64468764,4	K562	blood:
2	chr17:64467028..64468749-chr17:64470954..64473420,2	K562	blood:
3	chr17:64461760..64465917-chr17:64467345..64470667,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11869711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17771145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860659	0.92[ASN][1000 genomes]
rs34488708	0.92[ASN][1000 genomes]
rs57037655	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57078491	0.90[EUR][1000 genomes]
rs57178647	0.92[ASN][1000 genomes]
rs58134548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59920126	0.92[ASN][1000 genomes]
rs60283766	0.92[ASN][1000 genomes]
rs62070448	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070449	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070454	0.92[ASN][1000 genomes]
rs62070455	0.92[ASN][1000 genomes]
rs62070456	0.90[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	chr17:64460600-64470600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:64461600-64469800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:64462600-64471600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:64464800-64472400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:64465000-64468200	Weak transcription	Colonic Mucosa	Colon
6	chr17:64465000-64481400	Weak transcription	Primary T cells from cord blood	blood
7	chr17:64465200-64470600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:64465200-64470600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:64465400-64468400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:64465400-64469000	Weak transcription	Brain Germinal Matrix	brain
11	chr17:64465400-64469400	Weak transcription	Esophagus	oesophagus
12	chr17:64465400-64470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:64465400-64470400	Weak transcription	Pancreas	Pancrea
14	chr17:64465400-64470800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:64465400-64471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:64465400-64472800	Weak transcription	Stomach Mucosa	stomach
17	chr17:64465400-64489000	Weak transcription	Gastric	stomach
18	chr17:64465400-64492400	Weak transcription	Aorta	Aorta
19	chr17:64465600-64468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:64465600-64469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:64465600-64469000	Weak transcription	HMEC	breast
22	chr17:64465600-64469000	Weak transcription	NHEK	skin
23	chr17:64465800-64468800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:64465800-64469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:64466000-64469000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:64466000-64469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:64466000-64469200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:64466000-64470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:64466000-64470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:64466200-64468200	Weak transcription	Fetal Intestine Large	intestine
31	chr17:64466200-64468400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:64466200-64469200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr17:64466200-64469200	Weak transcription	Brain Anterior Caudate	brain
34	chr17:64466200-64469600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:64466200-64470000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr17:64466200-64470200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:64466200-64470200	Weak transcription	HepG2	liver
38	chr17:64466200-64470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:64466200-64470600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:64466200-64471000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:64466200-64471400	Weak transcription	Osteobl	bone
42	chr17:64466200-64472400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:64466200-64477400	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:64466400-64468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr17:64466400-64471400	Weak transcription	NHDF-Ad	bronchial
46	chr17:64466600-64468800	Enhancers	Duodenum Mucosa	Duodenum
47	chr17:64466800-64468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:64466800-64468400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr17:64466800-64469200	Weak transcription	Left Ventricle	heart
50	chr17:64466800-64470000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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