Variant report

Variant	rs1052491
Chromosome Location	chr19:36207510-36207511
allele	A/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	CREB1	chr19:36207433-36209049	HepG2	liver:	n/a	n/a
2	MAX	chr19:36206973-36209012	MCF-7	breast:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
3	CBX3	chr19:36207337-36208629	K562	blood:	n/a	n/a
4	BCL3	chr19:36207276-36208680	A549	lung:	n/a	chr19:36208079-36208092
5	HMGN3	chr19:36206988-36208816	K562	blood:	n/a	n/a
6	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
7	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
8	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:36206824-36207654	GM12878	blood:	n/a	n/a
10	E2F6	chr19:36206852-36208086	H1-hESC	embryonic stem cell:	n/a	chr19:36207550-36207561
11	KAP1	chr19:36207372-36208565	HEK293	kidney:	n/a	n/a
12	POLR2A	chr19:36207342-36207902	Gliobla	brain:	n/a	n/a
13	POLR2A	chr19:36207258-36208699	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr19:36207482-36208549	H1-hESC	embryonic stem cell:	n/a	chr19:36208404-36208418 chr19:36208073-36208083 chr19:36207998-36208012 chr19:36208071-36208084 chr19:36207994-36208013
15	CCNT2	chr19:36207384-36209615	K562	blood:	n/a	n/a
16	BCLAF1	chr19:36207494-36208843	GM12878	blood:	n/a	chr19:36208728-36208741 chr19:36208795-36208804 chr19:36208079-36208092
17	MAX	chr19:36207251-36208913	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
18	HEY1	chr19:36207373-36207629	K562	blood:	n/a	n/a
19	NRF1	chr19:36207449-36207696	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
21	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
22	NRF1	chr19:36207092-36209008	SK-N-SH	brain:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
23	CHD2	chr19:36207470-36207594	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:36207459-36208710	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr19:36207122-36208678	HCT-116	colon:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
26	FOXM1	chr19:36207189-36208890	GM12878	blood:	n/a	n/a
27	CTCF	chr19:36207466-36207530	Pancreas_OC	pancreas:	n/a	n/a
28	POLR2A	chr19:36206853-36209736	A549	lung:	n/a	n/a
29	MAX	chr19:36207129-36208808	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
30	MAX	chr19:36207395-36208817	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
31	ATF3	chr19:36207390-36208678	A549	lung:	n/a	chr19:36208188-36208197
32	TCF7L2	chr19:36207181-36208898	HCT-116	colon:	n/a	n/a
33	SIN3AK20	chr19:36207421-36209013	PANC-1	pancreas:	n/a	n/a
34	CHD1	chr19:36207443-36208081	H1-hESC	embryonic stem cell:	n/a	n/a
35	TEAD4	chr19:36207457-36208112	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr19:36207258-36207691	SK-N-SH_RA	brain:	n/a	n/a
37	CREB1	chr19:36206878-36209135	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:36207433-36209131	GM12878	blood:	n/a	n/a
39	ELF1	chr19:36206663-36208964	GM12878	blood:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
40	POLR2A	chr19:36206929-36209168	A549	lung:	n/a	n/a
41	CTBP2	chr19:36207503-36208646	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr19:36206917-36208688	A549	lung:	n/a	n/a
43	MAX	chr19:36207169-36208022	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
44	SMARCB1	chr19:36206972-36208778	Hela-S3	cervix:	n/a	chr19:36208644-36208653
45	POLR2A	chr19:36207344-36209164	PANC-1	pancreas:	n/a	n/a
46	MAX	chr19:36207279-36208745	ECC-1	luminal epithelium:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
47	STAT5A	chr19:36206634-36208827	GM12878	blood:	n/a	chr19:36208645-36208665 chr19:36206638-36206650 chr19:36206959-36206967 chr19:36207968-36207980
48	POLR2A	chr19:36207344-36209085	NB4	blood:	n/a	n/a
49	CTCF	chr19:36207396-36208429	MCF-7	breast:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
50	POLR2A	chr19:36206069-36208868	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36207415..36208017-chr19:42579953..42580598,2	Hela-S3	cervix:
2	chr19:36184398..36185696-chr19:36206796..36208519,15	MCF-7	breast:
3	chr19:36184365..36185469-chr19:36207271..36208713,26	K562	blood:
4	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
5	chr19:35843424..35844251-chr19:36207480..36208456,3	MCF-7	breast:
6	chr19:36201857..36203426-chr19:36205188..36208060,2	MCF-7	breast:
7	chr19:36027447..36030155-chr19:36207019..36209668,2	K562	blood:
8	chr19:35739392..35741271-chr19:36206536..36208531,2	MCF-7	breast:
9	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
10	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
11	chr19:36207093..36207844-chr19:36310862..36311467,2	MCF-7	breast:
12	chr19:36206900..36208442-chr19:36388262..36390598,2	MCF-7	breast:
13	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
14	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
15	chr19:36205889..36208076-chr19:36208426..36210267,2	MCF-7	breast:
16	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
17	chr19:36039298..36042202-chr19:36205627..36208173,3	K562	blood:
18	chr17:8076032..8077005-chr19:36207457..36208055,2	Hela-S3	cervix:
19	chr19:36204664..36206261-chr19:36206379..36207962,2	K562	blood:
20	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
21	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
22	chr19:36035974..36038022-chr19:36207371..36209822,3	MCF-7	breast:
23	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
24	chr19:36040674..36043456-chr19:36205595..36207863,3	MCF-7	breast:
25	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:
26	chr19:36039818..36040647-chr19:36207140..36208037,3	MCF-7	breast:
27	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
28	chr19:36207421..36208896-chr19:36422255..36423160,8	K562	blood:
29	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
30	chr19:36039764..36040843-chr19:36207367..36208510,6	K562	blood:
31	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
32	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
33	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
34	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
35	chr19:36119042..36121098-chr19:36206964..36208639,2	K562	blood:
36	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272333	TF binding region
KMT2B	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000105679	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000268947	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105675	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv828544	chr19:36207191-36210758	Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 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	chr19:36203600-36207600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr19:36204600-36208400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:36205200-36208200	Flanking Active TSS	GM12878-XiMat	blood
4	chr19:36206200-36207600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr19:36206200-36207800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36206200-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:36206200-36207800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr19:36206400-36207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:36206400-36207600	Enhancers	Fetal Brain Male	brain
10	chr19:36206400-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:36206400-36207800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:36206400-36208200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr19:36206600-36207600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:36206600-36207600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:36206600-36207600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr19:36206600-36207600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:36206600-36207600	Flanking Active TSS	Fetal Brain Female	brain
20	chr19:36206600-36207600	Flanking Active TSS	A549	lung
21	chr19:36206600-36207800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr19:36206600-36207800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:36206600-36208000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:36206600-36208000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr19:36206600-36208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:36206600-36208200	Flanking Active TSS	HMEC	breast
27	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:36206600-36209800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr19:36206600-36210000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:36206600-36210200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:36206800-36207600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr19:36206800-36207600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr19:36206800-36207600	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr19:36206800-36207600	Flanking Active TSS	Osteobl	bone
37	chr19:36206800-36207800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36206800-36207800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:36206800-36207800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr19:36206800-36208000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:36206800-36208200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:36206800-36208400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr19:36206800-36208400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr19:36206800-36208400	Flanking Active TSS	Liver	Liver
45	chr19:36206800-36208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr19:36206800-36210200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:36206800-36210200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:36206800-36210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:36207000-36207600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:36207000-36207600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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