Variant report

Variant	rs111444534
Chromosome Location	chr19:36207955-36207956
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	SRF	chr19:36207765-36208851	ECC-1	luminal epithelium:	n/a	chr19:36208776-36208786
4	CBX3	chr19:36207337-36208629	K562	blood:	n/a	n/a
5	BCL3	chr19:36207276-36208680	A549	lung:	n/a	chr19:36208079-36208092
6	HMGN3	chr19:36206988-36208816	K562	blood:	n/a	n/a
7	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
8	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
9	EGR1	chr19:36207717-36208541	K562	blood:	n/a	chr19:36207975-36207984 chr19:36207975-36207986 chr19:36207975-36207986 chr19:36208461-36208485 chr19:36207969-36207978 chr19:36208264-36208277 chr19:36207974-36207987 chr19:36207973-36207988 chr19:36208395-36208408 chr19:36207975-36207985 chr19:36207971-36207985 chr19:36207974-36207987 chr19:36207974-36207987 chr19:36207975-36207985 chr19:36207974-36207987 chr19:36207973-36207987
10	CTCF	chr19:36207920-36208070	HEEpiC	esophagus:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
11	CTCF	chr19:36207900-36208050	Hela-S3	cervix:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
12	CTCF	chr19:36207880-36208030	GM12868	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
13	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
14	TAF1	chr19:36207640-36208074	SK-N-SH	brain:	n/a	n/a
15	ZNF143	chr19:36207644-36208940	Hela-S3	cervix:	n/a	chr19:36208646-36208655 chr19:36208644-36208662 chr19:36208466-36208484 chr19:36208537-36208555 chr19:36208644-36208653 chr19:36208797-36208807 chr19:36208743-36208761 chr19:36208461-36208480
16	CTCF	chr19:36207702-36208150	ProgFib	skin:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
17	E2F6	chr19:36206852-36208086	H1-hESC	embryonic stem cell:	n/a	chr19:36207550-36207561
18	YY1	chr19:36207662-36208679	ECC-1	luminal epithelium:	n/a	chr19:36208292-36208306
19	CTCF	chr19:36207780-36208050	GM12864	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
20	KAP1	chr19:36207372-36208565	HEK293	kidney:	n/a	n/a
21	CTCF	chr19:36207940-36208090	AoAF	blood vessel:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
22	HDAC2	chr19:36207694-36208524	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:36207258-36208699	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr19:36207670-36208160	Lung_OC	lung:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
25	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
26	CTCF	chr19:36207900-36208050	HL-60	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
27	CCNT2	chr19:36207384-36209615	K562	blood:	n/a	n/a
28	BCLAF1	chr19:36207494-36208843	GM12878	blood:	n/a	chr19:36208728-36208741 chr19:36208795-36208804 chr19:36208079-36208092
29	CTCF	chr19:36207708-36208153	MCF-7	breast:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
30	CTCF	chr19:36207664-36208432	GM12891	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
31	SMC3	chr19:36207515-36208484	K562	blood:	n/a	chr19:36207998-36208008 chr19:36208073-36208083 chr19:36208005-36208012 chr19:36207998-36208012
32	MAX	chr19:36207251-36208913	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
33	CTCF	chr19:36207920-36208070	AG09319	gingival:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
34	ELK1	chr19:36207714-36208157	K562	blood:	n/a	n/a
35	PAX5	chr19:36207926-36208807	GM12892	blood:	n/a	n/a
36	REST	chr19:36207828-36208110	Hela-S3	cervix:	n/a	n/a
37	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
38	CTCF	chr19:36207920-36208070	HMEC	breast:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
39	MYC	chr19:36207794-36208965	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
40	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
41	RAD21	chr19:36207564-36208191	GM12878	blood:	n/a	chr19:36208073-36208083 chr19:36207998-36208012 chr19:36208071-36208084 chr19:36207994-36208013
42	NRF1	chr19:36207092-36209008	SK-N-SH	brain:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
43	CTCF	chr19:36207678-36208154	LNCaP	prostate:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
44	ARID3A	chr19:36207654-36208145	K562	blood:	n/a	n/a
45	POLR2A	chr19:36207459-36208710	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr19:36207880-36208030	GM12869	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
47	GABPA	chr19:36207898-36208846	MCF-7	breast:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
48	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
49	FOXM1	chr19:36207189-36208890	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:36206853-36209736	A549	lung:	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	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
9	chr19:35739392..35741271-chr19:36206536..36208531,2	MCF-7	breast:
10	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
11	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
12	chr19:36207922..36208687-chr19:36310659..36311315,2	MCF-7	breast:
13	chr19:36206900..36208442-chr19:36388262..36390598,2	MCF-7	breast:
14	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
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	chr19:36000992..36001563-chr19:36207919..36208494,2	K562	blood:
20	chr19:35760310..35760965-chr19:36207881..36208591,2	MCF-7	breast:
21	chr19:36204664..36206261-chr19:36206379..36207962,2	K562	blood:
22	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
23	chr19:36039837..36040814-chr19:36207538..36208431,5	MCF-7	breast:
24	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
25	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
26	chr19:36035974..36038022-chr19:36207371..36209822,3	MCF-7	breast:
27	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
28	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:
29	chr19:36039818..36040647-chr19:36207140..36208037,3	MCF-7	breast:
30	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
31	chr19:36183185..36183699-chr19:36207580..36208266,2	MCF-7	breast:
32	chr19:36207946..36209485-chr19:36241921..36244354,2	MCF-7	breast:
33	chr19:36046260..36047193-chr19:36207555..36208556,3	K562	blood:
34	chr19:36207421..36208896-chr19:36422255..36423160,8	K562	blood:
35	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
36	chr19:36039764..36040843-chr19:36207367..36208510,6	K562	blood:
37	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
38	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
39	chr19:36048652..36049165-chr19:36207784..36208399,2	K562	blood:
40	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
41	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
42	chr19:36119042..36121098-chr19:36206964..36208639,2	K562	blood:
43	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:
44	chr19:36207753..36208395-chr19:36310728..36311348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272333	TF binding region
KMT2B	TF binding region
ENSG00000105679	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000126267	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000268947	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000161249	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	chr19:36204600-36208400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:36205200-36208200	Flanking Active TSS	GM12878-XiMat	blood
3	chr19:36206400-36208200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:36206600-36208000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:36206600-36208000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:36206600-36208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:36206600-36208200	Flanking Active TSS	HMEC	breast
8	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:36206600-36208400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36206600-36209800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr19:36206600-36210000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:36206600-36210200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:36206800-36208000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:36206800-36208200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:36206800-36208400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr19:36206800-36208400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:36206800-36208400	Flanking Active TSS	Liver	Liver
19	chr19:36206800-36208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr19:36206800-36210200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:36206800-36210200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:36206800-36210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:36207000-36208000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:36207000-36208000	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr19:36207000-36208000	Flanking Active TSS	Hela-S3	cervix
26	chr19:36207000-36208000	Flanking Active TSS	NHEK	skin
27	chr19:36207000-36208200	Flanking Active TSS	Dnd41	blood
28	chr19:36207000-36208200	Flanking Active TSS	HUVEC	blood vessel
29	chr19:36207000-36208400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr19:36207000-36208400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:36207000-36208400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:36207000-36208400	Flanking Active TSS	Placenta	Placenta
33	chr19:36207000-36208600	Active TSS	Fetal Kidney	kidney
34	chr19:36207000-36210000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:36207000-36210000	Active TSS	NHDF-Ad	bronchial
36	chr19:36207000-36210200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr19:36207000-36210400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr19:36207000-36210400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr19:36207200-36208200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr19:36207200-36209400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:36207200-36209400	Active TSS	HepG2	liver
42	chr19:36207200-36209600	Active TSS	Gastric	stomach
43	chr19:36207200-36209800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:36207200-36209800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:36207200-36209800	Active TSS	Fetal Intestine Large	intestine
46	chr19:36207200-36209800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr19:36207200-36210000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:36207200-36210000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:36207200-36210000	Active TSS	Aorta	Aorta
50	chr19:36207200-36210000	Active TSS	Left Ventricle	heart

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