Variant report

Variant	rs540201116
Chromosome Location	chr17:67280707-67280708
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67278548..67281186-chr17:67283240..67285256,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:67236000-67283000	Weak transcription	Ovary	ovary
3	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
5	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
6	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
10	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
14	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:67265000-67289200	Weak transcription	Lung	lung
16	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:67266000-67282400	Weak transcription	HMEC	breast
18	chr17:67266200-67282000	Weak transcription	Hela-S3	cervix
19	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart
20	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:67266600-67282000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr17:67266800-67282400	Weak transcription	NHDF-Ad	bronchial
23	chr17:67267600-67283400	Weak transcription	HUVEC	blood vessel
24	chr17:67268600-67295400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
26	chr17:67270600-67289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:67271000-67289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:67271000-67298600	Weak transcription	Fetal Lung	lung
29	chr17:67271400-67296000	Weak transcription	Fetal Kidney	kidney
30	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:67272800-67282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:67272800-67289200	Weak transcription	Pancreas	Pancrea
33	chr17:67274600-67288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:67275800-67289200	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:67276200-67289200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
37	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
38	chr17:67277000-67283000	Weak transcription	Small Intestine	intestine
39	chr17:67277200-67289200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:67277600-67281000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:67277600-67283000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:67277600-67285200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:67277600-67286000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:67277600-67288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:67277600-67289000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:67277600-67289200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:67277600-67289200	Strong transcription	Liver	Liver
48	chr17:67277600-67293600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:67277800-67282000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:67277800-67282000	Weak transcription	NHEK	skin

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