Variant report

Variant	rs569944240
Chromosome Location	chr17:16395134-16395135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16340606..16343390-chr17:16393092..16395708,2	MCF-7	breast:
2	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:

Variant related genes	Relation type
ENSG00000175061	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv574487	chr17:16389498-16395496	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1794587	chr17:16389498-16395680	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	esv3323619	chr17:16394252-16396800	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3344255	chr17:16394352-16396600	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv20869	chr17:16394909-16395705	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv574488	chr17:16394936-16395496	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv574489	chr17:16394936-16395626	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv574490	chr17:16394936-16395680	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv574491	chr17:16394987-16395626	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv574492	chr17:16394987-16395680	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv574493	chr17:16395083-16395680	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv574494	chr17:16395083-16398555	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16394000-16396200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:16394200-16396000	Active TSS	Primary T cells from cord blood	blood
3	chr17:16394400-16395200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr17:16394400-16395200	Bivalent/Poised TSS	NHDF-Ad	bronchial
5	chr17:16394400-16395600	Enhancers	Liver	Liver
6	chr17:16394400-16395800	Active TSS	Fetal Intestine Large	intestine
7	chr17:16394400-16395800	Active TSS	Small Intestine	intestine
8	chr17:16394400-16396000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:16394400-16396000	Bivalent/Poised TSS	NHLF	lung
10	chr17:16394600-16395200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr17:16394600-16395800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:16394600-16395800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:16394600-16395800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
14	chr17:16394600-16395800	Active TSS	Aorta	Aorta
15	chr17:16394600-16395800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:16394600-16395800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr17:16394600-16396000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:16394600-16396000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:16394600-16396000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16394600-16396000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:16394600-16396000	Active TSS	Brain Cingulate Gyrus	brain
22	chr17:16394600-16396200	Bivalent/Poised TSS	HepG2	liver
23	chr17:16394800-16395200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16394800-16395200	Enhancers	Fetal Brain Male	brain
25	chr17:16394800-16395200	Flanking Active TSS	Left Ventricle	heart
26	chr17:16394800-16395200	Flanking Active TSS	Lung	lung
27	chr17:16394800-16395600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr17:16394800-16395600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:16394800-16395600	Active TSS	Right Ventricle	heart
30	chr17:16394800-16395800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr17:16394800-16395800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:16394800-16395800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:16394800-16395800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:16394800-16395800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr17:16394800-16395800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:16394800-16395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:16394800-16395800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:16394800-16395800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:16394800-16395800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr17:16394800-16395800	Active TSS	Esophagus	oesophagus
41	chr17:16394800-16395800	Weak transcription	Fetal Heart	heart
42	chr17:16394800-16395800	Active TSS	Fetal Intestine Small	intestine
43	chr17:16394800-16395800	Active TSS	Pancreas	Pancrea
44	chr17:16394800-16395800	Active TSS	Psoas Muscle	Psoas
45	chr17:16394800-16395800	Bivalent/Poised TSS	Thymus	Thymus
46	chr17:16394800-16395800	Active TSS	NH-A	brain
47	chr17:16394800-16396000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:16394800-16396000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:16394800-16396000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:16394800-16396000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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