Variant report

Variant	rs679447
Chromosome Location	chr17:60052366-60052367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60021178..60022769-chr17:60051978..60053926,2	K562	blood:
2	chr17:60045013..60047691-chr17:60050667..60053467,2	MCF-7	breast:
3	chr17:60037551..60039820-chr17:60051605..60053453,2	K562	blood:
4	chr17:60042303..60044527-chr17:60050544..60052969,2	MCF-7	breast:
5	chr17:60039140..60041434-chr17:60052103..60054723,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4968465	0.90[AFR][1000 genomes]
rs606072	1.00[ASW][hapmap];0.89[AFR][1000 genomes]
rs668794	1.00[YRI][hapmap]
rs671347	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs685240	1.00[AFR][1000 genomes]
rs7215446	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7216123	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7223182	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60018000-60072800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:60018000-60073400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:60018600-60072600	Strong transcription	Fetal Thymus	thymus
4	chr17:60018800-60073600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:60020400-60073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:60020600-60073000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:60020800-60073800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:60021200-60097000	Strong transcription	Dnd41	blood
9	chr17:60021800-60052400	Strong transcription	HepG2	liver
10	chr17:60021800-60073600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:60022200-60053200	Strong transcription	Fetal Intestine Large	intestine
12	chr17:60025400-60074200	Strong transcription	Liver	Liver
13	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:60028400-60059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:60032800-60058600	Weak transcription	Fetal Heart	heart
16	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
17	chr17:60033200-60056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:60034800-60072800	Strong transcription	Placenta	Placenta
19	chr17:60035800-60064400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr17:60036000-60074000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:60036400-60070000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr17:60038400-60059400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:60040400-60058800	Weak transcription	NHEK	skin
24	chr17:60042600-60058400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:60042600-60063600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:60042800-60056000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:60042800-60058600	Weak transcription	Brain Substantia Nigra	brain
28	chr17:60042800-60059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:60042800-60059600	Weak transcription	Pancreas	Pancrea
30	chr17:60042800-60059800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
32	chr17:60043200-60059400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr17:60044000-60058800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:60044000-60059400	Weak transcription	Fetal Brain Male	brain
35	chr17:60044400-60062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:60044800-60052600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:60044800-60059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:60045000-60052400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr17:60045600-60055800	Weak transcription	K562	blood
40	chr17:60045600-60059600	Weak transcription	Brain Angular Gyrus	brain
41	chr17:60045800-60056200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:60046400-60062800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:60047000-60058400	Weak transcription	HUVEC	blood vessel
44	chr17:60047200-60058600	Weak transcription	Gastric	stomach
45	chr17:60047400-60053800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:60047600-60058600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:60047800-60053400	Weak transcription	A549	lung
48	chr17:60047800-60053600	Weak transcription	HMEC	breast
49	chr17:60047800-60057600	Weak transcription	Fetal Kidney	kidney
50	chr17:60047800-60058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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