Variant report

Variant	rs531646571
Chromosome Location	chr17:16256116-16256117
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	chr17:16256110-16256476	GM12892	blood:	n/a	n/a
4	MAX	chr17:16255786-16256310	K562	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
5	PML	chr17:16255572-16256134	GM12878	blood:	n/a	chr17:16255956-16255964
6	POLR2A	chr17:16255987-16256513	A549	lung:	n/a	n/a
7	MAZ	chr17:16255598-16256154	HepG2	liver:	n/a	chr17:16255917-16255924
8	ZBTB7A	chr17:16255873-16256569	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr17:16255128-16257457	A549	lung:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
10	POLR2A	chr17:16256102-16257051	NB4	blood:	n/a	n/a
11	POLR2A	chr17:16255451-16256325	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:16255463-16257214	H1-neurons	neurons:	n/a	n/a
13	BACH1	chr17:16255486-16256213	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:16254999-16257367	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:16255505-16256476	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr17:16255767-16256566	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr17:16255634-16256380	HepG2	liver:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
18	TAF1	chr17:16255445-16257246	H1-hESC	embryonic stem cell:	n/a	n/a
19	HMGN3	chr17:16256072-16257098	K562	blood:	n/a	n/a
20	POLR2A	chr17:16255495-16257149	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr17:16255944-16256153	K562	blood:	n/a	n/a
22	POLR2A	chr17:16255483-16256452	H1-hESC	embryonic stem cell:	n/a	n/a
23	HA-E2F1	chr17:16255549-16256175	MCF-7	breast:	n/a	chr17:16255763-16255777 chr17:16255733-16255742 chr17:16255734-16255744 chr17:16256085-16256099 chr17:16256159-16256168
24	HA-E2F1	chr17:16255566-16257091	Hela-S3	cervix:	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
25	MYC	chr17:16256095-16256146	K562	blood:	n/a	n/a
26	TCF7L2	chr17:16255518-16257074	HCT-116	colon:	n/a	n/a
27	POLR2A	chr17:16256110-16257141	GM18951	blood:	n/a	n/a
28	MAX	chr17:16255528-16257062	NB4	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
29	SMARCB1	chr17:16255511-16257255	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr17:16256072-16256142	MCF-7	breast:	n/a	n/a
31	POLR2A	chr17:16255447-16257125	K562	blood:	n/a	n/a
32	POLR2A	chr17:16255384-16257144	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr17:16255595-16256254	Hela-S3	cervix:	n/a	chr17:16256243-16256250 chr17:16256199-16256209 chr17:16256152-16256162
34	TCF7L2	chr17:16255420-16256373	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr17:16255132-16257371	A549	lung:	n/a	chr17:16255923-16255932
36	MYC	chr17:16255601-16257020	K562	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
37	MAZ	chr17:16255796-16256285	GM12878	blood:	n/a	chr17:16255917-16255924
38	POLR2A	chr17:16256089-16257142	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:16255475-16256948	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr17:16255454-16256324	HepG2	liver:	n/a	n/a
41	TAF1	chr17:16255437-16256541	A549	lung:	n/a	n/a
42	MAX	chr17:16255498-16257404	H1-hESC	embryonic stem cell:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
43	TAF1	chr17:16255506-16257071	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr17:16254938-16257468	A549	lung:	n/a	chr17:16255796-16255809 chr17:16255797-16255807
45	E2F1	chr17:16255584-16257053	Hela-S3	cervix:	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
46	TAF1	chr17:16255610-16256316	SK-N-SH	brain:	n/a	n/a
47	MAX	chr17:16255685-16256244	H1-hESC	embryonic stem cell:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
48	FOSL2	chr17:16255121-16256353	A549	lung:	n/a	chr17:16256155-16256164
49	POLR2A	chr17:16255557-16256147	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr17:16256061-16256249	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16255950..16256675-chr3:4534784..4535381,2	Hela-S3	cervix:
2	chr17:16220122..16222963-chr17:16255326..16257269,2	MCF-7	breast:
3	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
4	chr17:16255579..16258175-chr17:16317390..16320464,4	K562	blood:
5	chr17:16255603..16256214-chr17:78120426..78120928,2	Hela-S3	cervix:
6	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
7	chr17:16254441..16256330-chr17:16335664..16338333,2	K562	blood:
8	chr17:16255579..16257907-chr17:16317390..16319077,3	K562	blood:
9	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
10	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
11	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
12	chr17:16255944..16256499-chr17:16342648..16343571,2	Hela-S3	cervix:
13	chr17:16255649..16256190-chr5:81267269..81267929,2	Hela-S3	cervix:
14	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
15	chr11:62648364..62648968-chr17:16255776..16256732,2	Hela-S3	cervix:
16	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:

Variant related genes	Relation type
CENPV	TF binding region
ENSG00000264739	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000231249	Chromatin interaction
ENSG00000150995	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000266651	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16254400-16257200	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr17:16254600-16257000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr17:16254600-16257000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:16254600-16257000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:16254600-16257000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:16254600-16257000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:16254600-16257000	Active TSS	K562	blood
8	chr17:16254600-16257400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:16254800-16257000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:16254800-16257200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:16254800-16257400	Active TSS	Fetal Brain Female	brain
12	chr17:16255000-16256200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr17:16255000-16256200	Active TSS	Fetal Brain Male	brain
14	chr17:16255000-16257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr17:16255000-16257200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr17:16255000-16257200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:16255000-16257400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr17:16255000-16257400	Active TSS	Brain Angular Gyrus	brain
19	chr17:16255000-16257400	Active TSS	NH-A	brain
20	chr17:16255000-16257400	Active TSS	NHLF	lung
21	chr17:16255200-16256200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16255200-16256200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr17:16255200-16256200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16255200-16256200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:16255200-16256200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:16255200-16256200	Flanking Active TSS	Liver	Liver
27	chr17:16255200-16256200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:16255200-16256400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:16255200-16256400	Flanking Active TSS	HMEC	breast
30	chr17:16255200-16256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:16255200-16256800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:16255200-16256800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr17:16255200-16257000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:16255200-16257000	Active TSS	Psoas Muscle	Psoas
35	chr17:16255200-16257000	Active TSS	A549	lung
36	chr17:16255200-16257200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:16255200-16257200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:16255200-16257200	Active TSS	Aorta	Aorta
39	chr17:16255200-16257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr17:16255200-16257400	Active TSS	Brain Germinal Matrix	brain
41	chr17:16255200-16257400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr17:16255400-16256200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr17:16255400-16256200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:16255400-16256200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr17:16255400-16256200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr17:16255400-16256200	Active TSS	Right Ventricle	heart
47	chr17:16255400-16256400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:16255400-16256400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr17:16255400-16256600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:16255400-16256600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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