Variant report

Variant	rs556553696
Chromosome Location	chr17:20059584-20059585
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20059521..20061143-chr17:20081573..20083266,2	MCF-7	breast:
2	chr17:20058693..20060833-chr17:20107962..20111201,3	MCF-7	breast:
3	chr17:19988478..19990422-chr17:20059544..20061745,2	MCF-7	breast:
4	chr1:151253915..151254758-chr17:20058799..20059680,2	Hela-S3	cervix:
5	chr17:20057192..20060270-chr17:20108096..20110844,3	K562	blood:
6	chr17:20027673..20031271-chr17:20059449..20061879,3	MCF-7	breast:
7	chr17:20059180..20059804-chr5:108745357..108746183,2	Hela-S3	cervix:
8	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143373	Chromatin interaction
ENSG00000128487	Chromatin interaction
ENSG00000108599	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000212186	Chromatin interaction
ENSG00000198961	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314150	chr17:20058385-20061233	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3314151	chr17:20058385-20061233	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr17:20058400-20060000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr17:20058400-20060200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr17:20058600-20059600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:20058600-20060000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr17:20058600-20060200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:20058600-20060400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:20058600-20060400	Active TSS	Duodenum Mucosa	Duodenum
8	chr17:20058800-20059600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:20058800-20059600	Active TSS	Left Ventricle	heart
10	chr17:20058800-20059800	Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr17:20058800-20059800	Active TSS	Right Ventricle	heart
12	chr17:20058800-20059800	Active TSS	NHLF	lung
13	chr17:20058800-20060000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:20058800-20060000	Active TSS	Colon Smooth Muscle	Colon
15	chr17:20058800-20060000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
16	chr17:20058800-20060000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr17:20058800-20060200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:20058800-20060200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:20058800-20060200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:20058800-20060200	Active TSS	Primary T cells from cord blood	blood
21	chr17:20058800-20060200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:20058800-20060200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:20058800-20060200	Active TSS	Fetal Intestine Large	intestine
24	chr17:20058800-20060200	Active TSS	Fetal Intestine Small	intestine
25	chr17:20058800-20060200	Active TSS	Rectal Smooth Muscle	rectum
26	chr17:20058800-20060200	Active TSS	Osteobl	bone
27	chr17:20058800-20060400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:20058800-20060400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:20058800-20060400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:20058800-20060400	Active TSS	Aorta	Aorta
31	chr17:20058800-20060400	Active TSS	Esophagus	oesophagus
32	chr17:20058800-20060400	Active TSS	Ovary	ovary
33	chr17:20058800-20060400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr17:20058800-20060400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr17:20058800-20060600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr17:20058800-20060600	Active TSS	Right Atrium	heart
37	chr17:20058800-20060600	Active TSS	HSMM	muscle
38	chr17:20058800-20060800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:20058800-20060800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr17:20058800-20060800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:20058800-20060800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:20058800-20060800	Active TSS	Brain Anterior Caudate	brain
43	chr17:20058800-20061000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:20058800-20061000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:20058800-20061000	Active TSS	NH-A	brain
46	chr17:20058800-20061200	Active TSS	Brain Angular Gyrus	brain
47	chr17:20058800-20061200	Active TSS	Brain Substantia Nigra	brain
48	chr17:20059000-20059600	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr17:20059000-20059600	Active TSS	Thymus	Thymus
50	chr17:20059000-20059800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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