Variant report

Variant	rs113989349
Chromosome Location	chr17:16395337-16395338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16394715-16395432	MCF-7	breast:	n/a	n/a
2	POLR2A	chr17:16395282-16395795	A549	lung:	n/a	n/a
3	POLR2A	chr17:16395227-16395501	HCT-116	colon:	n/a	n/a
4	MAZ	chr17:16395151-16395351	Hela-S3	cervix:	n/a	n/a
5	EGR1	chr17:16395297-16395522	GM12878	blood:	n/a	chr17:16395471-16395481 chr17:16395436-16395450
6	EGR1	chr17:16395235-16395885	ECC-1	luminal epithelium:	n/a	chr17:16395471-16395481 chr17:16395742-16395755 chr17:16395742-16395755 chr17:16395436-16395450 chr17:16395745-16395755 chr17:16395745-16395754
7	E2F6	chr17:16395217-16395857	K562	blood:	n/a	chr17:16395305-16395315 chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
8	POLR2A	chr17:16395108-16395477	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr17:16394626-16395350	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr17:16395201-16395513	K562	blood:	n/a	chr17:16395471-16395481 chr17:16395436-16395450
11	MAX	chr17:16395002-16396156	A549	lung:	n/a	chr17:16395674-16395684
12	MYC	chr17:16394830-16395407	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:16395029-16395430	ECC-1	luminal epithelium:	n/a	n/a
14	EGR1	chr17:16395265-16395847	K562	blood:	n/a	chr17:16395471-16395481 chr17:16395742-16395755 chr17:16395742-16395755 chr17:16395436-16395450 chr17:16395745-16395755 chr17:16395745-16395754
15	MAX	chr17:16394950-16395942	ECC-1	luminal epithelium:	n/a	chr17:16395674-16395684
16	MAZ	chr17:16395237-16395876	K562	blood:	n/a	chr17:16395674-16395684
17	CCNT2	chr17:16395130-16395353	K562	blood:	n/a	n/a
18	ZBTB7A	chr17:16395280-16395414	K562	blood:	n/a	n/a
19	E2F6	chr17:16395290-16395447	K562	blood:	n/a	chr17:16395305-16395315
20	HA-E2F1	chr17:16395025-16395885	Hela-S3	cervix:	n/a	chr17:16395305-16395315 chr17:16395667-16395677 chr17:16395631-16395643
21	EGR1	chr17:16395253-16395823	ECC-1	luminal epithelium:	n/a	chr17:16395471-16395481 chr17:16395742-16395755 chr17:16395742-16395755 chr17:16395436-16395450 chr17:16395745-16395755 chr17:16395745-16395754
22	E2F6	chr17:16395247-16395861	K562	blood:	n/a	chr17:16395305-16395315 chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
23	EGR1	chr17:16395278-16395650	GM12878	blood:	n/a	chr17:16395471-16395481 chr17:16395436-16395450
24	EBF1	chr17:16395059-16395406	GM12878	blood:	n/a	n/a

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
FAM211A	TF binding region
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:113 , 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	chr17:16394400-16395600	Enhancers	Liver	Liver
4	chr17:16394400-16395800	Active TSS	Fetal Intestine Large	intestine
5	chr17:16394400-16395800	Active TSS	Small Intestine	intestine
6	chr17:16394400-16396000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:16394400-16396000	Bivalent/Poised TSS	NHLF	lung
8	chr17:16394600-16395800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:16394600-16395800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:16394600-16395800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
11	chr17:16394600-16395800	Active TSS	Aorta	Aorta
12	chr17:16394600-16395800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:16394600-16395800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr17:16394600-16396000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr17:16394600-16396000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:16394600-16396000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:16394600-16396000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:16394600-16396000	Active TSS	Brain Cingulate Gyrus	brain
19	chr17:16394600-16396200	Bivalent/Poised TSS	HepG2	liver
20	chr17:16394800-16395600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr17:16394800-16395600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr17:16394800-16395600	Active TSS	Right Ventricle	heart
23	chr17:16394800-16395800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr17:16394800-16395800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:16394800-16395800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:16394800-16395800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr17:16394800-16395800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr17:16394800-16395800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:16394800-16395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:16394800-16395800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:16394800-16395800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:16394800-16395800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr17:16394800-16395800	Active TSS	Esophagus	oesophagus
34	chr17:16394800-16395800	Weak transcription	Fetal Heart	heart
35	chr17:16394800-16395800	Active TSS	Fetal Intestine Small	intestine
36	chr17:16394800-16395800	Active TSS	Pancreas	Pancrea
37	chr17:16394800-16395800	Active TSS	Psoas Muscle	Psoas
38	chr17:16394800-16395800	Bivalent/Poised TSS	Thymus	Thymus
39	chr17:16394800-16395800	Active TSS	NH-A	brain
40	chr17:16394800-16396000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:16394800-16396000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr17:16394800-16396000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:16394800-16396000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr17:16394800-16396000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:16394800-16396000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr17:16394800-16396000	Active TSS	Duodenum Mucosa	Duodenum
47	chr17:16394800-16396000	Active TSS	Ovary	ovary
48	chr17:16394800-16396000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr17:16394800-16396000	Active TSS	Hela-S3	cervix
50	chr17:16394800-16396000	Bivalent/Poised TSS	HSMM	muscle

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