Variant report

Variant	rs17356361
Chromosome Location	chr1:154909169-154909170
allele	A/C/G/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	MTA3	chr1:154908615-154910517	GM12878	blood:	n/a	n/a
2	SMARCC2	chr1:154908826-154910321	Hela-S3	cervix:	n/a	n/a
3	ZBTB33	chr1:154908749-154910101	A549	lung:	n/a	chr1:154909172-154909187
4	REST	chr1:154908562-154910214	A549	lung:	n/a	n/a
5	PBX3	chr1:154909108-154909312	GM12878	blood:	n/a	n/a
6	STAT1	chr1:154908955-154910347	GM12878	blood:	n/a	chr1:154910021-154910029
7	TAF1	chr1:154908917-154909445	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:154908680-154910134	MCF-7	breast:	n/a	n/a
9	E2F4	chr1:154908854-154910160	MCF10A-Er-Src	breast:	n/a	chr1:154909223-154909238 chr1:154909047-154909059 chr1:154909934-154909943 chr1:154909048-154909055 chr1:154909048-154909055 chr1:154909046-154909057 chr1:154909048-154909055
10	TCF12	chr1:154908694-154909967	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:154908803-154910301	H1-neurons	neurons:	n/a	n/a
12	TBP	chr1:154908739-154910214	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr1:154908823-154910064	HepG2	liver:	n/a	chr1:154909151-154909171
14	MAX	chr1:154908680-154910149	MCF-7	breast:	n/a	chr1:154909015-154909026 chr1:154909016-154909025 chr1:154909014-154909027 chr1:154909036-154909046 chr1:154909016-154909025 chr1:154909015-154909026 chr1:154909011-154909030
15	TEAD4	chr1:154908728-154909813	HepG2	liver:	n/a	n/a
16	CTCF	chr1:154909060-154909210	SAEC	small airway:	n/a	n/a
17	FOXP2	chr1:154908984-154909854	SK-N-MC	brain:	n/a	n/a
18	MAZ	chr1:154908907-154910154	HepG2	liver:	n/a	chr1:154909015-154909026 chr1:154909016-154909025 chr1:154909014-154909027 chr1:154909036-154909046 chr1:154909016-154909025 chr1:154909015-154909026 chr1:154909011-154909030
19	USF1	chr1:154908740-154909344	H1-hESC	embryonic stem cell:	n/a	chr1:154909015-154909024 chr1:154909016-154909025 chr1:154909014-154909027 chr1:154909016-154909025 chr1:154909014-154909025
20	FOXA2	chr1:154908893-154909501	A549	lung:	n/a	n/a
21	ATF1	chr1:154908900-154910175	K562	blood:	n/a	n/a
22	POLR2A	chr1:154908956-154909379	K562	blood:	n/a	n/a
23	CREB1	chr1:154908808-154910338	K562	blood:	n/a	chr1:154909760-154909773
24	POLR2A	chr1:154908834-154909564	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:154908687-154910758	GM12878	blood:	n/a	n/a
26	ATF2	chr1:154908927-154910009	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr1:154908833-154910188	A549	lung:	n/a	chr1:154909760-154909773
28	ELF1	chr1:154908839-154909384	K562	blood:	n/a	n/a
29	ELF1	chr1:154908736-154909992	MCF-7	breast:	n/a	n/a
30	TAF1	chr1:154908755-154909493	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr1:154908708-154910263	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr1:154909060-154909210	HPAF	blood vessel:	n/a	n/a
33	NFATC1	chr1:154908747-154910386	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:154908133-154910817	GM12878	blood:	n/a	n/a
35	YY1	chr1:154908912-154909284	K562	blood:	n/a	chr1:154909151-154909171
36	GATA3	chr1:154908883-154910205	T-47D	breast:	n/a	n/a
37	CHD1	chr1:154908498-154910738	GM12878	blood:	n/a	chr1:154909774-154909784
38	TBP	chr1:154908859-154910536	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:154908814-154910128	PANC-1	pancreas:	n/a	n/a
40	RAD21	chr1:154908906-154909328	Hela-S3	cervix:	n/a	n/a
41	YY1	chr1:154908899-154909268	HCT-116	colon:	n/a	chr1:154909151-154909171
42	CTCF	chr1:154909045-154909203	A549	lung:	n/a	n/a
43	NFE2	chr1:154908889-154909171	GM12878	blood:	n/a	chr1:154909016-154909025
44	USF2	chr1:154908664-154910542	Hela-S3	cervix:	n/a	chr1:154909015-154909024 chr1:154909016-154909025 chr1:154909014-154909025 chr1:154909014-154909027 chr1:154909016-154909025
45	TAF1	chr1:154909013-154909519	PFSK-1	brain:	n/a	n/a
46	SIN3AK20	chr1:154908794-154909247	A549	lung:	n/a	n/a
47	REST	chr1:154908850-154909245	PANC-1	pancreas:	n/a	n/a
48	CTCF	chr1:154909080-154909230	GM12866	blood:	n/a	n/a
49	CTCF	chr1:154908939-154909391	GM12892	blood:	n/a	n/a
50	CTCF	chr1:154909080-154909230	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154908713..154910557-chr1:155032303..155034913,2	MCF-7	breast:
2	chr1:154377039..154379691-chr1:154908164..154910149,2	MCF-7	breast:
3	chr1:43855004..43855651-chr1:154908762..154909578,2	NB4	blood:
4	chr1:154907989..154910976-chr1:155021311..155023807,3	K562	blood:
5	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
6	chr1:154907814..154911845-chr1:155021941..155025304,6	MCF-7	breast:
7	chr1:154908283..154909177-chr13:111805981..111806593,2	Hela-S3	cervix:
8	chr1:154528299..154532058-chr1:154906276..154909371,3	K562	blood:
9	chr1:154909002..154909664-chr19:40931551..40932075,2	HCT-116	colon:
10	chr1:154908623..154911481-chr1:155056952..155059272,2	MCF-7	breast:
11	chr1:154908789..154910425-chr1:155034251..155037160,2	K562	blood:

Variant related genes	Relation type
ENSG00000270361	TF binding region
ENSG00000251246	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000198198	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000102606	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000159479	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000228013	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11552300	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60445215	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995438	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995442	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995460	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154907800-154909200	Flanking Active TSS	Dnd41	blood
2	chr1:154908000-154909200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr1:154908200-154909200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:154908200-154909200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:154908200-154909200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr1:154908200-154909200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr1:154908200-154909200	Flanking Active TSS	HMEC	breast
8	chr1:154908200-154909200	Flanking Active TSS	NHEK	skin
9	chr1:154908200-154909400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:154908200-154910000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:154908200-154910000	Active TSS	HSMM	muscle
12	chr1:154908200-154910200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:154908200-154910200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:154908200-154910200	Active TSS	HSMMtube	muscle
15	chr1:154908200-154910400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:154908400-154909200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:154908400-154909200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:154908400-154909200	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr1:154908400-154909200	Flanking Active TSS	K562	blood
20	chr1:154908400-154910200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:154908400-154910200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:154908400-154910200	Active TSS	Fetal Kidney	kidney
23	chr1:154908400-154910200	Active TSS	GM12878-XiMat	blood
24	chr1:154908400-154910200	Active TSS	NHDF-Ad	bronchial
25	chr1:154908400-154910400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:154908400-154910400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:154908400-154910400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:154908400-154910400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:154908400-154910400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:154908400-154910400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:154908400-154910400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:154908400-154910400	Active TSS	Aorta	Aorta
33	chr1:154908400-154910400	Active TSS	Psoas Muscle	Psoas
34	chr1:154908400-154910600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:154908400-154910600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:154908600-154909200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:154908600-154909200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:154908600-154909200	Flanking Active TSS	HepG2	liver
39	chr1:154908600-154909400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:154908600-154909400	Flanking Active TSS	Fetal Thymus	thymus
41	chr1:154908600-154910000	Active TSS	NHLF	lung
42	chr1:154908600-154910200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:154908600-154910200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:154908600-154910200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:154908600-154910200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:154908600-154910200	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:154908600-154910200	Active TSS	Brain Hippocampus Middle	brain
48	chr1:154908600-154910200	Active TSS	Colon Smooth Muscle	Colon
49	chr1:154908600-154910200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:154908600-154910200	Active TSS	Fetal Heart	heart

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