Variant report

Variant	rs187428056
Chromosome Location	chr19:36207251-36207252
allele	A/C
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	MAX	chr19:36206973-36209012	MCF-7	breast:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
2	HMGN3	chr19:36206988-36208816	K562	blood:	n/a	n/a
3	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
4	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
5	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:36206824-36207654	GM12878	blood:	n/a	n/a
7	E2F6	chr19:36206852-36208086	H1-hESC	embryonic stem cell:	n/a	chr19:36207550-36207561
8	MAX	chr19:36207251-36208913	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
9	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
10	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
11	NRF1	chr19:36207092-36209008	SK-N-SH	brain:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
12	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
13	FOXM1	chr19:36207189-36208890	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:36206853-36209736	A549	lung:	n/a	n/a
15	MAX	chr19:36207129-36208808	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
16	TCF7L2	chr19:36207181-36208898	HCT-116	colon:	n/a	n/a
17	CREB1	chr19:36206878-36209135	HepG2	liver:	n/a	n/a
18	ELF1	chr19:36206663-36208964	GM12878	blood:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
19	POLR2A	chr19:36206929-36209168	A549	lung:	n/a	n/a
20	REST	chr19:36206917-36208688	A549	lung:	n/a	n/a
21	MAX	chr19:36207169-36208022	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
22	SMARCB1	chr19:36206972-36208778	Hela-S3	cervix:	n/a	chr19:36208644-36208653
23	STAT5A	chr19:36206634-36208827	GM12878	blood:	n/a	chr19:36208645-36208665 chr19:36206638-36206650 chr19:36206959-36206967 chr19:36207968-36207980
24	CTCF	chr19:36207152-36207305	GM12891	blood:	n/a	n/a
25	POLR2A	chr19:36206069-36208868	HepG2	liver:	n/a	n/a
26	CTCF	chr19:36207159-36207263	MCF-7	breast:	n/a	n/a
27	SP1	chr19:36207152-36208968	A549	lung:	n/a	chr19:36207972-36207981 chr19:36207973-36207982 chr19:36207971-36207983 chr19:36208399-36208409 chr19:36207978-36207988 chr19:36207972-36207982 chr19:36207971-36207983
28	POLR2A	chr19:36206681-36207292	GM12878	blood:	n/a	n/a
29	MAX	chr19:36206864-36208825	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
30	SIX5	chr19:36207078-36208903	A549	lung:	n/a	chr19:36208644-36208653 chr19:36208646-36208655 chr19:36208419-36208433 chr19:36208642-36208656
31	CTCF	chr19:36206919-36208449	GM12892	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
32	POLR2A	chr19:36207250-36209162	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr19:36206371-36208820	GM12892	blood:	n/a	n/a
34	POLR2A	chr19:36202895-36208735	GM12878	blood:	n/a	n/a
35	MYC	chr19:36207175-36208824	MCF10A-Er-Src	breast:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
36	CREB1	chr19:36207093-36208984	GM12878	blood:	n/a	n/a
37	EP300	chr19:36207104-36208677	GM12878	blood:	n/a	chr19:36208396-36208412
38	POLR2A	chr19:36207163-36209102	HepG2	liver:	n/a	n/a
39	SMC3	chr19:36207133-36208677	GM12878	blood:	n/a	chr19:36207998-36208008 chr19:36208073-36208083 chr19:36208005-36208012 chr19:36207998-36208012
40	SMARCC1	chr19:36207018-36208504	Hela-S3	cervix:	n/a	n/a
41	MAX	chr19:36206759-36209002	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
42	BACH1	chr19:36207082-36207429	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr19:36207078-36208740	SK-N-SH	brain:	n/a	chr19:36208404-36208418 chr19:36208073-36208083 chr19:36207998-36208012 chr19:36208071-36208084 chr19:36207994-36208013
44	POLR2A	chr19:36206860-36208063	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr19:36206900-36208970	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
46	STAT5A	chr19:36206986-36207378	GM12878	blood:	n/a	n/a
47	E2F6	chr19:36206977-36208823	A549	lung:	n/a	chr19:36207550-36207561
48	ELF1	chr19:36207005-36208887	HCT-116	colon:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
49	POLR2A	chr19:36206647-36210191	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:36207157-36209466	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36184398..36185696-chr19:36206796..36208519,15	MCF-7	breast:
2	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
3	chr19:36201857..36203426-chr19:36205188..36208060,2	MCF-7	breast:
4	chr19:36027447..36030155-chr19:36207019..36209668,2	K562	blood:
5	chr19:35739392..35741271-chr19:36206536..36208531,2	MCF-7	breast:
6	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
7	chr19:36207093..36207844-chr19:36310862..36311467,2	MCF-7	breast:
8	chr19:36206900..36208442-chr19:36388262..36390598,2	MCF-7	breast:
9	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
10	chr19:36205889..36208076-chr19:36208426..36210267,2	MCF-7	breast:
11	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
12	chr19:36039298..36042202-chr19:36205627..36208173,3	K562	blood:
13	chr19:36204664..36206261-chr19:36206379..36207962,2	K562	blood:
14	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
15	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
16	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
17	chr19:36040674..36043456-chr19:36205595..36207863,3	MCF-7	breast:
18	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:
19	chr19:36039818..36040647-chr19:36207140..36208037,3	MCF-7	breast:
20	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
21	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
22	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
23	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
24	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
25	chr19:36119042..36121098-chr19:36206964..36208639,2	K562	blood:
26	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272333	TF binding region
KMT2B	TF binding region
ENSG00000004776	Chromatin interaction
ENSG00000268947	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000105679	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	chr19:36203200-36207400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr19:36203600-36207600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr19:36204600-36208400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:36205200-36208200	Flanking Active TSS	GM12878-XiMat	blood
5	chr19:36205600-36207400	Enhancers	Stomach Mucosa	stomach
6	chr19:36206200-36207600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:36206200-36207800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:36206200-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:36206200-36207800	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr19:36206400-36207400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:36206400-36207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:36206400-36207600	Enhancers	Fetal Brain Male	brain
13	chr19:36206400-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:36206400-36207800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:36206400-36208200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:36206600-36207400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:36206600-36207400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:36206600-36207400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr19:36206600-36207400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr19:36206600-36207400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr19:36206600-36207600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:36206600-36207600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:36206600-36207600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr19:36206600-36207600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:36206600-36207600	Flanking Active TSS	Fetal Brain Female	brain
28	chr19:36206600-36207600	Flanking Active TSS	A549	lung
29	chr19:36206600-36207800	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr19:36206600-36207800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:36206600-36208000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr19:36206600-36208000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr19:36206600-36208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:36206600-36208200	Flanking Active TSS	HMEC	breast
35	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:36206600-36209800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr19:36206600-36210000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:36206600-36210200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:36206800-36207400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr19:36206800-36207400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:36206800-36207400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:36206800-36207400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr19:36206800-36207400	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr19:36206800-36207400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr19:36206800-36207400	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr19:36206800-36207400	Flanking Active TSS	Pancreas	Pancrea
49	chr19:36206800-36207400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr19:36206800-36207400	Flanking Active TSS	Right Ventricle	heart

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