Variant report

Variant	rs548979203
Chromosome Location	chr17:16255500-16255501
allele	C/T
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	HEY1	chr17:16255452-16256261	HepG2	liver:	n/a	chr17:16256148-16256163 chr17:16256153-16256168
2	SIN3A	chr17:16255316-16257170	H1-hESC	embryonic stem cell:	n/a	chr17:16256156-16256167 chr17:16256967-16256980 chr17:16256920-16256931
3	POLR2A	chr17:16255396-16256017	GM12892	blood:	n/a	n/a
4	PBX3	chr17:16254984-16255562	SK-N-SH	brain:	n/a	n/a
5	MAX	chr17:16255128-16257457	A549	lung:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
6	POLR2A	chr17:16255451-16256325	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:16255463-16257214	H1-neurons	neurons:	n/a	n/a
8	BACH1	chr17:16255486-16256213	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:16254999-16257367	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr17:16255212-16255957	Hela-S3	cervix:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
11	MTA3	chr17:16255443-16256094	GM12878	blood:	n/a	n/a
12	TAF1	chr17:16255445-16257246	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:16255495-16257149	Hela-S3	cervix:	n/a	n/a
14	TAF7	chr17:16255292-16255762	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:16255483-16256452	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOS	chr17:16255227-16255517	MCF10A-Er-Src	breast:	n/a	n/a
17	RFX5	chr17:16255216-16256011	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr17:16255480-16255630	HMF	breast:	n/a	n/a
19	CTCF	chr17:16255500-16255650	AG09319	gingival:	n/a	n/a
20	POLR2A	chr17:16255447-16257125	K562	blood:	n/a	n/a
21	POLR2A	chr17:16255384-16257144	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr17:16255480-16255630	BJ	skin:	n/a	n/a
23	CTCF	chr17:16255460-16255610	AG10803	skin:	n/a	n/a
24	TCF7L2	chr17:16255420-16256373	Hela-S3	cervix:	n/a	n/a
25	GTF2F1	chr17:16255296-16256054	Hela-S3	cervix:	n/a	n/a
26	TCF12	chr17:16255132-16257371	A549	lung:	n/a	chr17:16255923-16255932
27	CTCF	chr17:16255360-16255510	HPAF	blood vessel:	n/a	n/a
28	POLR2A	chr17:16255475-16256948	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr17:16255454-16256324	HepG2	liver:	n/a	n/a
30	TAF1	chr17:16255437-16256541	A549	lung:	n/a	n/a
31	MAX	chr17:16255498-16257404	H1-hESC	embryonic stem cell:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
32	CTCF	chr17:16254938-16257468	A549	lung:	n/a	chr17:16255796-16255809 chr17:16255797-16255807
33	CTCF	chr17:16255440-16255590	HCPEpiC	choroid plexus:	n/a	n/a
34	FOSL2	chr17:16255121-16256353	A549	lung:	n/a	chr17:16256155-16256164
35	CTCF	chr17:16255440-16255690	HPAF	blood vessel:	n/a	n/a
36	MYC	chr17:16255303-16255915	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr17:16255440-16257430	A549	lung:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
38	REST	chr17:16254933-16257165	H1-neurons	neurons:	n/a	chr17:16255664-16255677
39	MAZ	chr17:16255263-16257104	IMR90	lung:	n/a	chr17:16255917-16255924
40	MXI1	chr17:16254992-16257072	IMR90	lung:	n/a	n/a
41	MAX	chr17:16255463-16257292	HepG2	liver:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
42	FOS	chr17:16255182-16255522	MCF10A-Er-Src	breast:	n/a	n/a
43	HEY1	chr17:16255466-16256381	HepG2	liver:	n/a	chr17:16256148-16256163 chr17:16256153-16256168
44	MBD4	chr17:16255476-16256110	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr17:16255429-16256053	SK-N-SH	brain:	n/a	n/a
46	RUNX3	chr17:16255495-16256206	GM12878	blood:	n/a	n/a
47	E2F6	chr17:16255447-16257324	A549	lung:	n/a	chr17:16256243-16256250 chr17:16256243-16256254 chr17:16256243-16256254 chr17:16255763-16255777 chr17:16255733-16255742 chr17:16255734-16255744 chr17:16256085-16256099 chr17:16256159-16256168
48	CTCF	chr17:16255047-16257439	SK-N-SH	brain:	n/a	chr17:16255796-16255809 chr17:16255797-16255807
49	CEBPB	chr17:16255257-16255597	K562	blood:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
50	RAD21	chr17:16255274-16256098	IMR90	lung:	n/a	chr17:16255794-16255806 chr17:16255796-16255806

No.	Distal block	Cell Line	Cell type
1	chr17:16220122..16222963-chr17:16255326..16257269,2	MCF-7	breast:
2	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
3	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
4	chr17:16254441..16256330-chr17:16335664..16338333,2	K562	blood:
5	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
6	chr17:16254890..16255689-chr17:59860995..59861816,2	MCF-7	breast:
7	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
8	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
9	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
10	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:
11	chr17:16254424..16256101-chr17:16267326..16269115,2	K562	blood:

Variant related genes	Relation type
CENPV	TF binding region
ENSG00000170315	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv962266	chr17:16245920-16260306	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv827903	chr17:16251979-16283760	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
11	esv3329403	chr17:16255252-16258100	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16229400-16255600	Weak transcription	Esophagus	oesophagus
2	chr17:16253000-16255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:16253000-16255600	Weak transcription	Gastric	stomach
4	chr17:16253000-16255600	Weak transcription	Lung	lung
5	chr17:16253000-16255600	Weak transcription	Spleen	Spleen
6	chr17:16253200-16255600	Weak transcription	Left Ventricle	heart
7	chr17:16253200-16255600	Weak transcription	Pancreas	Pancrea
8	chr17:16254400-16255800	Flanking Active TSS	Dnd41	blood
9	chr17:16254400-16257200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:16254600-16255600	Active TSS	Fetal Intestine Small	intestine
11	chr17:16254600-16255800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr17:16254600-16257000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr17:16254600-16257000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:16254600-16257000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:16254600-16257000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:16254600-16257000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:16254600-16257000	Active TSS	K562	blood
18	chr17:16254600-16257400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:16254800-16257000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:16254800-16257200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr17:16254800-16257400	Active TSS	Fetal Brain Female	brain
22	chr17:16255000-16255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:16255000-16255600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr17:16255000-16255600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:16255000-16256000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr17:16255000-16256000	Flanking Active TSS	HUVEC	blood vessel
27	chr17:16255000-16256000	Flanking Active TSS	Osteobl	bone
28	chr17:16255000-16256200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr17:16255000-16256200	Active TSS	Fetal Brain Male	brain
30	chr17:16255000-16257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr17:16255000-16257200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr17:16255000-16257200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:16255000-16257400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr17:16255000-16257400	Active TSS	Brain Angular Gyrus	brain
35	chr17:16255000-16257400	Active TSS	NH-A	brain
36	chr17:16255000-16257400	Active TSS	NHLF	lung
37	chr17:16255200-16255600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr17:16255200-16255600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:16255200-16255600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:16255200-16255600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr17:16255200-16255600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr17:16255200-16255600	Enhancers	Primary B cells from peripheral blood	blood
43	chr17:16255200-16255600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:16255200-16255600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:16255200-16255600	Flanking Active TSS	Fetal Kidney	kidney
46	chr17:16255200-16255600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr17:16255200-16255600	Flanking Active TSS	Fetal Lung	lung
48	chr17:16255200-16255600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr17:16255200-16255600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:16255200-16255600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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