Variant report

Variant	rs188652843
Chromosome Location	chr17:16256681-16256682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16256568-16256941	MCF-7	breast:	n/a	n/a
2	IRF1	chr17:16256557-16256875	K562	blood:	n/a	n/a
3	SIN3A	chr17:16255316-16257170	H1-hESC	embryonic stem cell:	n/a	chr17:16256156-16256167 chr17:16256967-16256980 chr17:16256920-16256931
4	POLR2A	chr17:16256192-16257042	A549	lung:	n/a	n/a
5	POLR2A	chr17:16256547-16256841	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr17:16256199-16257097	GM19099	blood:	n/a	n/a
7	POLR2A	chr17:16256464-16256947	GM12891	blood:	n/a	n/a
8	MYC	chr17:16256577-16256944	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:16256535-16257028	HCT-116	colon:	n/a	n/a
10	MAX	chr17:16255128-16257457	A549	lung:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
11	POLR2A	chr17:16256102-16257051	NB4	blood:	n/a	n/a
12	POLR2A	chr17:16255463-16257214	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr17:16254999-16257367	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr17:16256554-16257121	HepG2	liver:	n/a	chr17:16256917-16256933
15	STAT1	chr17:16256521-16256686	GM12878	blood:	n/a	n/a
16	TAF1	chr17:16256567-16256947	GM12878	blood:	n/a	n/a
17	TAF1	chr17:16255445-16257246	H1-hESC	embryonic stem cell:	n/a	n/a
18	HMGN3	chr17:16256072-16257098	K562	blood:	n/a	n/a
19	POLR2A	chr17:16255495-16257149	Hela-S3	cervix:	n/a	n/a
20	YY1	chr17:16256372-16257041	K562	blood:	n/a	n/a
21	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
22	TAF1	chr17:16256553-16257172	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr17:16256443-16256820	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3AK20	chr17:16256572-16256824	K562	blood:	n/a	n/a
25	E2F6	chr17:16256415-16256942	K562	blood:	n/a	n/a
26	POLR2A	chr17:16256186-16257081	GM19193	blood:	n/a	n/a
27	MAX	chr17:16256599-16257230	HepG2	liver:	n/a	n/a
28	TAF1	chr17:16256143-16257108	HepG2	liver:	n/a	n/a
29	FOXP2	chr17:16256460-16257101	PFSK-1	brain:	n/a	n/a
30	JUND	chr17:16256594-16257024	K562	blood:	n/a	n/a
31	TCF7L2	chr17:16255518-16257074	HCT-116	colon:	n/a	n/a
32	RAD21	chr17:16256511-16257168	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr17:16256503-16257086	GM12892	blood:	n/a	n/a
34	POLR2A	chr17:16256523-16257068	A549	lung:	n/a	n/a
35	POLR2A	chr17:16256110-16257141	GM18951	blood:	n/a	n/a
36	POLR2A	chr17:16256156-16257022	MCF-7	breast:	n/a	n/a
37	MAX	chr17:16255528-16257062	NB4	blood:	n/a	chr17:16255915-16255925 chr17:16255917-16255924
38	CTCF	chr17:16256651-16257020	K562	blood:	n/a	n/a
39	SMARCB1	chr17:16255511-16257255	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr17:16256459-16257024	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr17:16255447-16257125	K562	blood:	n/a	n/a
42	SIN3AK20	chr17:16256466-16256795	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr17:16255384-16257144	Hela-S3	cervix:	n/a	n/a
44	YY1	chr17:16256506-16257092	GM12891	blood:	n/a	n/a
45	ZNF143	chr17:16256584-16257266	H1-hESC	embryonic stem cell:	n/a	chr17:16256995-16257010
46	RUNX3	chr17:16256492-16257077	GM12878	blood:	n/a	n/a
47	ZBTB7A	chr17:16256579-16257043	K562	blood:	n/a	n/a
48	TCF12	chr17:16256656-16257055	GM12878	blood:	n/a	n/a
49	CTCF	chr17:16256672-16257054	K562	blood:	n/a	n/a
50	POLR2A	chr17:16256564-16256783	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16256667-16256717	NB4	blood:	n/a
2	chr17:16256667-16256717	SKMC	muscle:	n/a
3	chr17:16256667-16256717	HPAEpiC	pulmonary alveolar:	n/a
4	chr17:16256667-16256717	NHBE	bronchial:	n/a
5	chr17:16256667-16256717	AG04449	skin:	fetal
6	chr17:16256667-16256717	CMK	blood:	n/a
7	chr17:16256667-16256717	HAEpiC	amniotic membrane:	n/a
8	chr17:16256667-16256717	HEK293	kidney:	embryo
9	chr17:16256667-16256717	GM19239	blood:	n/a
10	chr17:16256667-16256717	HRE	kidney:	n/a
11	chr17:16256667-16256717	HIPEpiC	eye:	n/a
12	chr17:16256667-16256717	U87	brain:	n/a
13	chr17:16256667-16256717	K562	blood:	n/a
14	chr17:16256667-16256717	Hela-S3	cervix:	n/a
15	chr17:16256667-16256717	H1-hESC	embryonic stem cell:	embryo
16	chr17:16256667-16256717	HUVEC	blood vessel:	n/a
17	chr17:16256667-16256717	HCF	heart:	n/a
18	chr17:16256667-16256717	AG04450	lung:	fetal
19	chr17:16256667-16256717	HMEC	breast:	n/a
20	chr17:16256667-16256717	AG09319	gingival:	n/a
21	chr17:16256667-16256717	GM12892	blood:	n/a
22	chr17:16256667-16256717	ECC-1	luminal epithelium:	n/a
23	chr17:16256667-16256717	HRPEpiC	eye:	n/a
24	chr17:16256667-16256717	IMR90	lung:	fetal
25	chr17:16256667-16256717	MCF-7	breast:	n/a
26	chr17:16256667-16256717	RPTEC	kidney:	n/a
27	chr17:16256667-16256717	LNCaP	prostate:	n/a
28	chr17:16256667-16256717	BJ	skin:	n/a
29	chr17:16256667-16256717	HEEpiC	esophagus:	n/a
30	chr17:16256667-16256717	ProgFib	skin:	n/a
31	chr17:16256667-16256717	HCPEpiC	choroid plexus:	n/a
32	chr17:16256667-16256717	GM12891	blood:	n/a
33	chr17:16256667-16256717	Hepatocyte	liver:	n/a
34	chr17:16256667-16256717	HNPCEpiC	eye:	n/a
35	chr17:16256667-16256717	A549	lung:	n/a
36	chr17:16256667-16256717	GM06990	blood:	n/a
37	chr17:16256667-16256717	HL-60	blood:	n/a
38	chr17:16256667-16256717	Caco-2	colon:	n/a
39	chr17:16256667-16256717	PFSK-1	brain:	n/a
40	chr17:16256667-16256717	HCT-116	colon:	n/a
41	chr17:16256667-16256717	HepG2	liver:	n/a
42	chr17:16256667-16256717	AG09309	skin:	n/a
43	chr17:16256667-16256717	SAEC	small airway:	n/a
44	chr17:16256667-16256717	SK-N-MC	brain:	n/a
45	chr17:16256667-16256717	HRCEpiC	kidney:	n/a
46	chr17:16256667-16256717	AoSMC	blood vessel:	n/a
47	chr17:16256667-16256717	NT2-D1	testis:	n/a
48	chr17:16256667-16256717	SK-N-SH	brain:	n/a
49	chr17:16256667-16256717	BE2_C	brain:	n/a
50	chr17:16256667-16256717	PANC-1	pancreas:	n/a

(count:13 , 50 per page) page: 1

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	chr17:16255579..16258175-chr17:16317390..16320464,4	K562	blood:
4	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
5	chr17:16256179..16256981-chr6:30710207..30711099,2	Hela-S3	cervix:
6	chr17:16255579..16257907-chr17:16317390..16319077,3	K562	blood:
7	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
8	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
9	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
10	chr17:16256283..16257212-chr5:172197673..172198301,2	Hela-S3	cervix:
11	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
12	chr11:62648364..62648968-chr17:16255776..16256732,2	Hela-S3	cervix:
13	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:

No data

Variant related genes	Relation type
CENPV	TF binding region
CENPV	CpG island
ENSG00000120129	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000187688	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	chr17:16254400-16257200	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	chr17:16255000-16257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr17:16255000-16257200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr17:16255000-16257200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:16255000-16257400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:16255000-16257400	Active TSS	Brain Angular Gyrus	brain
17	chr17:16255000-16257400	Active TSS	NH-A	brain
18	chr17:16255000-16257400	Active TSS	NHLF	lung
19	chr17:16255200-16256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:16255200-16256800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:16255200-16256800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:16255200-16257000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:16255200-16257000	Active TSS	Psoas Muscle	Psoas
24	chr17:16255200-16257000	Active TSS	A549	lung
25	chr17:16255200-16257200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:16255200-16257200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:16255200-16257200	Active TSS	Aorta	Aorta
28	chr17:16255200-16257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:16255200-16257400	Active TSS	Brain Germinal Matrix	brain
30	chr17:16255200-16257400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr17:16255400-16256800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr17:16255400-16257000	Active TSS	Brain Cingulate Gyrus	brain
33	chr17:16255400-16257000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:16255400-16257000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
35	chr17:16255400-16257000	Active TSS	GM12878-XiMat	blood
36	chr17:16255400-16257200	Active TSS	Brain Anterior Caudate	brain
37	chr17:16255400-16257200	Active TSS	Ovary	ovary
38	chr17:16255400-16257200	Active TSS	Rectal Smooth Muscle	rectum
39	chr17:16255400-16257400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:16255400-16257400	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr17:16255400-16257400	Active TSS	Brain Hippocampus Middle	brain
42	chr17:16255400-16257400	Active TSS	Hela-S3	cervix
43	chr17:16255600-16257000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr17:16255600-16257200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr17:16255600-16257200	Active TSS	Brain Substantia Nigra	brain
46	chr17:16255600-16257200	Active TSS	Gastric	stomach
47	chr17:16255600-16257200	Active TSS	Lung	lung
48	chr17:16255600-16257200	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr17:16255600-16257200	Active TSS	Small Intestine	intestine
50	chr17:16255600-16257200	Active TSS	HSMM	muscle

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