Variant report

Variant	rs552990971
Chromosome Location	chr19:36208720-36208721
allele	-/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	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	HMGN3	chr19:36206988-36208816	K562	blood:	n/a	n/a
5	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
6	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
7	PBX3	chr19:36208655-36208799	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
9	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
10	TCF3	chr19:36208574-36208823	GM12878	blood:	n/a	chr19:36208705-36208721
11	CCNT2	chr19:36207384-36209615	K562	blood:	n/a	n/a
12	BCLAF1	chr19:36207494-36208843	GM12878	blood:	n/a	chr19:36208728-36208741 chr19:36208795-36208804 chr19:36208079-36208092
13	MAX	chr19:36207251-36208913	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
14	PAX5	chr19:36207926-36208807	GM12892	blood:	n/a	n/a
15	HDAC2	chr19:36208207-36208778	HepG2	liver:	n/a	n/a
16	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
17	MYC	chr19:36207794-36208965	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
18	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
19	NRF1	chr19:36207092-36209008	SK-N-SH	brain:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
20	EGR1	chr19:36208269-36208898	GM12878	blood:	n/a	chr19:36208776-36208786 chr19:36208461-36208485 chr19:36208742-36208766 chr19:36208395-36208408 chr19:36208643-36208667
21	SIX5	chr19:36208236-36208730	H1-hESC	embryonic stem cell:	n/a	chr19:36208644-36208653 chr19:36208646-36208655 chr19:36208419-36208433 chr19:36208642-36208656
22	GABPA	chr19:36207898-36208846	MCF-7	breast:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
23	USF1	chr19:36208228-36208828	ECC-1	luminal epithelium:	n/a	chr19:36208726-36208742
24	FOXM1	chr19:36207189-36208890	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:36206853-36209736	A549	lung:	n/a	n/a
26	MAX	chr19:36207129-36208808	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
27	MAX	chr19:36207395-36208817	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
28	TCF7L2	chr19:36207181-36208898	HCT-116	colon:	n/a	n/a
29	EGR1	chr19:36207641-36208732	MCF-7	breast:	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 chr19:36208643-36208667
30	SIN3AK20	chr19:36207421-36209013	PANC-1	pancreas:	n/a	n/a
31	CREB1	chr19:36206878-36209135	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:36207433-36209131	GM12878	blood:	n/a	n/a
33	ELF1	chr19:36206663-36208964	GM12878	blood:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
34	POLR2A	chr19:36206929-36209168	A549	lung:	n/a	n/a
35	CHD2	chr19:36208339-36208786	K562	blood:	n/a	n/a
36	CHD2	chr19:36207810-36208823	HepG2	liver:	n/a	n/a
37	SMARCB1	chr19:36206972-36208778	Hela-S3	cervix:	n/a	chr19:36208644-36208653
38	POLR2A	chr19:36207344-36209164	PANC-1	pancreas:	n/a	n/a
39	MAX	chr19:36207279-36208745	ECC-1	luminal epithelium:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
40	HA-E2F1	chr19:36208336-36208755	MCF-7	breast:	n/a	n/a
41	RELA	chr19:36207613-36208726	GM18526	blood:	n/a	n/a
42	STAT5A	chr19:36206634-36208827	GM12878	blood:	n/a	chr19:36208645-36208665 chr19:36206638-36206650 chr19:36206959-36206967 chr19:36207968-36207980
43	POLR2A	chr19:36207344-36209085	NB4	blood:	n/a	n/a
44	GABPA	chr19:36208309-36208796	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:36206069-36208868	HepG2	liver:	n/a	n/a
46	ZNF143	chr19:36207616-36208931	H1-hESC	embryonic stem cell:	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
47	MAX	chr19:36207401-36208906	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
48	GABPA	chr19:36208167-36208807	HL-60	blood:	n/a	chr19:36208190-36208199
49	IRF1	chr19:36208292-36208823	K562	blood:	n/a	n/a
50	RELA	chr19:36207574-36208765	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
2	chr19:36027447..36030155-chr19:36207019..36209668,2	K562	blood:
3	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
4	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
5	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
6	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
7	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
8	chr19:36208185..36209878-chr19:36358146..36361161,3	K562	blood:
9	chr19:36018973..36020669-chr19:36208062..36210070,2	K562	blood:
10	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
11	chr19:36208378..36210285-chr19:36358548..36361708,3	K562	blood:
12	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
13	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
14	chr19:36036075..36036913-chr19:36208047..36208833,2	MCF-7	breast:
15	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
16	chr19:36035974..36038022-chr19:36207371..36209822,3	MCF-7	breast:
17	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
18	chr19:35758844..35760411-chr19:36208018..36210634,2	MCF-7	breast:
19	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
20	chr19:36208544..36210188-chr19:36360524..36362280,2	MCF-7	breast:
21	chr19:36207946..36209485-chr19:36241921..36244354,2	MCF-7	breast:
22	chr15:91414558..91415107-chr19:36208292..36208792,2	NB4	blood:
23	chr19:36207421..36208896-chr19:36422255..36423160,8	K562	blood:
24	chr19:36203511..36205032-chr19:36208383..36210782,2	MCF-7	breast:
25	chr19:36208682..36209521-chr20:37100779..37101545,2	HCT-116	colon:
26	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
27	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
28	chr19:36208456..36210034-chr19:36345854..36347720,2	K562	blood:
29	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
30	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
31	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
32	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272333	TF binding region
KMT2B	TF binding region
ENSG00000205155	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000126259	Chromatin interaction
ENSG00000170471	Chromatin interaction
ENSG00000268947	Chromatin interaction
ENSG00000126267	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000011590	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000189001	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000105679	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv3365662	chr19:36208037-36210160	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	35 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	chr19:36206600-36209800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36206600-36210000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:36206600-36210200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:36206800-36210200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:36206800-36210200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:36206800-36210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:36207000-36210000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:36207000-36210000	Active TSS	NHDF-Ad	bronchial
9	chr19:36207000-36210200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:36207000-36210400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:36207000-36210400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:36207200-36209400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:36207200-36209400	Active TSS	HepG2	liver
14	chr19:36207200-36209600	Active TSS	Gastric	stomach
15	chr19:36207200-36209800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:36207200-36209800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:36207200-36209800	Active TSS	Fetal Intestine Large	intestine
18	chr19:36207200-36209800	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr19:36207200-36210000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:36207200-36210000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:36207200-36210000	Active TSS	Aorta	Aorta
22	chr19:36207200-36210000	Active TSS	Left Ventricle	heart
23	chr19:36207200-36210000	Active TSS	Psoas Muscle	Psoas
24	chr19:36207200-36210000	Active TSS	Small Intestine	intestine
25	chr19:36207200-36210600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:36207400-36209400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:36207400-36209400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:36207400-36209600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr19:36207400-36209600	Active TSS	Brain Substantia Nigra	brain
30	chr19:36207400-36209600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:36207400-36209600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr19:36207400-36209600	Active TSS	Rectal Smooth Muscle	rectum
33	chr19:36207400-36209600	Active TSS	Right Ventricle	heart
34	chr19:36207400-36209800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr19:36207400-36209800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:36207400-36209800	Active TSS	Brain Angular Gyrus	brain
37	chr19:36207400-36209800	Active TSS	Brain Anterior Caudate	brain
38	chr19:36207400-36209800	Active TSS	Brain Cingulate Gyrus	brain
39	chr19:36207400-36209800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:36207400-36209800	Active TSS	Colon Smooth Muscle	Colon
41	chr19:36207400-36209800	Active TSS	Esophagus	oesophagus
42	chr19:36207400-36209800	Active TSS	Fetal Intestine Small	intestine
43	chr19:36207400-36209800	Active TSS	Fetal Lung	lung
44	chr19:36207400-36209800	Active TSS	Fetal Stomach	stomach
45	chr19:36207400-36209800	Active TSS	Stomach Mucosa	stomach
46	chr19:36207400-36210000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:36207400-36210000	Active TSS	Ovary	ovary
48	chr19:36207400-36210200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:36207600-36209400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:36207600-36209400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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