Variant report

Variant	rs185168306
Chromosome Location	chr19:36208558-36208559
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	EP300	chr19:36208350-36208607	T-47D	breast:	n/a	chr19:36208396-36208412
2	CREB1	chr19:36207433-36209049	HepG2	liver:	n/a	n/a
3	MAX	chr19:36206973-36209012	MCF-7	breast:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
4	SRF	chr19:36207765-36208851	ECC-1	luminal epithelium:	n/a	chr19:36208776-36208786
5	CBX3	chr19:36207337-36208629	K562	blood:	n/a	n/a
6	BCL3	chr19:36207276-36208680	A549	lung:	n/a	chr19:36208079-36208092
7	HMGN3	chr19:36206988-36208816	K562	blood:	n/a	n/a
8	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
9	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
10	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
11	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
12	YY1	chr19:36207662-36208679	ECC-1	luminal epithelium:	n/a	chr19:36208292-36208306
13	STAT5A	chr19:36208268-36208673	K562	blood:	n/a	chr19:36208645-36208665
14	KAP1	chr19:36207372-36208565	HEK293	kidney:	n/a	n/a
15	POLR2A	chr19:36207258-36208699	ECC-1	luminal epithelium:	n/a	n/a
16	CCNT2	chr19:36207384-36209615	K562	blood:	n/a	n/a
17	BCLAF1	chr19:36207494-36208843	GM12878	blood:	n/a	chr19:36208728-36208741 chr19:36208795-36208804 chr19:36208079-36208092
18	MAFK	chr19:36208377-36208571	HepG2	liver:	n/a	n/a
19	MAX	chr19:36207251-36208913	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
20	SIN3AK20	chr19:36208275-36208616	HepG2	liver:	n/a	n/a
21	PAX5	chr19:36207926-36208807	GM12892	blood:	n/a	n/a
22	HDAC2	chr19:36208207-36208778	HepG2	liver:	n/a	n/a
23	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
24	MYC	chr19:36207794-36208965	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
25	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
26	NRF1	chr19:36207092-36209008	SK-N-SH	brain:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
27	EGR1	chr19:36208269-36208898	GM12878	blood:	n/a	chr19:36208776-36208786 chr19:36208461-36208485 chr19:36208742-36208766 chr19:36208395-36208408 chr19:36208643-36208667
28	SIX5	chr19:36208236-36208730	H1-hESC	embryonic stem cell:	n/a	chr19:36208644-36208653 chr19:36208646-36208655 chr19:36208419-36208433 chr19:36208642-36208656
29	POLR2A	chr19:36207459-36208710	HUVEC	blood vessel:	n/a	n/a
30	GABPA	chr19:36207898-36208846	MCF-7	breast:	n/a	chr19:36208190-36208199 chr19:36207973-36207982
31	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
32	USF1	chr19:36208228-36208828	ECC-1	luminal epithelium:	n/a	chr19:36208726-36208742
33	FOXM1	chr19:36207189-36208890	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:36206853-36209736	A549	lung:	n/a	n/a
35	MAX	chr19:36207129-36208808	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
36	MAX	chr19:36207395-36208817	K562	blood:	n/a	chr19:36207976-36207985 chr19:36207972-36207982
37	ATF3	chr19:36207390-36208678	A549	lung:	n/a	chr19:36208188-36208197
38	TCF7L2	chr19:36207181-36208898	HCT-116	colon:	n/a	n/a
39	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
40	SIN3AK20	chr19:36207421-36209013	PANC-1	pancreas:	n/a	n/a
41	CEBPB	chr19:36207659-36208658	Hela-S3	cervix:	n/a	n/a
42	EGR1	chr19:36207691-36208689	ECC-1	luminal epithelium:	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
43	CREB1	chr19:36206878-36209135	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:36207433-36209131	GM12878	blood:	n/a	n/a
45	STAT3	chr19:36208417-36208638	MCF10A-Er-Src	breast:	n/a	n/a
46	ELF1	chr19:36206663-36208964	GM12878	blood:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
47	POLR2A	chr19:36206929-36209168	A549	lung:	n/a	n/a
48	CHD2	chr19:36208339-36208786	K562	blood:	n/a	n/a
49	CTBP2	chr19:36207503-36208646	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr19:36207810-36208823	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36184365..36185469-chr19:36207271..36208713,26	K562	blood:
2	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
3	chr19:36027447..36030155-chr19:36207019..36209668,2	K562	blood:
4	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
5	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
6	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
7	chr19:36207922..36208687-chr19:36310659..36311315,2	MCF-7	breast:
8	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
9	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
10	chr19:36208185..36209878-chr19:36358146..36361161,3	K562	blood:
11	chr19:36018973..36020669-chr19:36208062..36210070,2	K562	blood:
12	chr19:35760310..35760965-chr19:36207881..36208591,2	MCF-7	breast:
13	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
14	chr19:36208378..36210285-chr19:36358548..36361708,3	K562	blood:
15	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
16	chr19:36047300..36050125-chr19:36207207..36209834,3	K562	blood:
17	chr19:36036075..36036913-chr19:36208047..36208833,2	MCF-7	breast:
18	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
19	chr19:36035974..36038022-chr19:36207371..36209822,3	MCF-7	breast:
20	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
21	chr19:35758844..35760411-chr19:36208018..36210634,2	MCF-7	breast:
22	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
23	chr19:36208544..36210188-chr19:36360524..36362280,2	MCF-7	breast:
24	chr19:36207946..36209485-chr19:36241921..36244354,2	MCF-7	breast:
25	chr15:91414558..91415107-chr19:36208292..36208792,2	NB4	blood:
26	chr19:36207421..36208896-chr19:36422255..36423160,8	K562	blood:
27	chr19:36203511..36205032-chr19:36208383..36210782,2	MCF-7	breast:
28	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
29	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
30	chr19:36208456..36210034-chr19:36345854..36347720,2	K562	blood:
31	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
32	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
33	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
34	chr19:36119042..36121098-chr19:36206964..36208639,2	K562	blood:
35	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
ENSG00000105679	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000011590	Chromatin interaction
ENSG00000189001	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000126259	Chromatin interaction
ENSG00000268947	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000126267	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000105675	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	chr19:36207000-36208600	Active TSS	Fetal Kidney	kidney
8	chr19:36207000-36210000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:36207000-36210000	Active TSS	NHDF-Ad	bronchial
10	chr19:36207000-36210200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:36207000-36210400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:36207000-36210400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:36207200-36209400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:36207200-36209400	Active TSS	HepG2	liver
15	chr19:36207200-36209600	Active TSS	Gastric	stomach
16	chr19:36207200-36209800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:36207200-36209800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:36207200-36209800	Active TSS	Fetal Intestine Large	intestine
19	chr19:36207200-36209800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr19:36207200-36210000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:36207200-36210000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:36207200-36210000	Active TSS	Aorta	Aorta
23	chr19:36207200-36210000	Active TSS	Left Ventricle	heart
24	chr19:36207200-36210000	Active TSS	Psoas Muscle	Psoas
25	chr19:36207200-36210000	Active TSS	Small Intestine	intestine
26	chr19:36207200-36210600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36207400-36209400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:36207400-36209400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr19:36207400-36209600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr19:36207400-36209600	Active TSS	Brain Substantia Nigra	brain
31	chr19:36207400-36209600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:36207400-36209600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr19:36207400-36209600	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:36207400-36209600	Active TSS	Right Ventricle	heart
35	chr19:36207400-36209800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr19:36207400-36209800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr19:36207400-36209800	Active TSS	Brain Angular Gyrus	brain
38	chr19:36207400-36209800	Active TSS	Brain Anterior Caudate	brain
39	chr19:36207400-36209800	Active TSS	Brain Cingulate Gyrus	brain
40	chr19:36207400-36209800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:36207400-36209800	Active TSS	Colon Smooth Muscle	Colon
42	chr19:36207400-36209800	Active TSS	Esophagus	oesophagus
43	chr19:36207400-36209800	Active TSS	Fetal Intestine Small	intestine
44	chr19:36207400-36209800	Active TSS	Fetal Lung	lung
45	chr19:36207400-36209800	Active TSS	Fetal Stomach	stomach
46	chr19:36207400-36209800	Active TSS	Stomach Mucosa	stomach
47	chr19:36207400-36210000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:36207400-36210000	Active TSS	Ovary	ovary
49	chr19:36207400-36210200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:36207600-36209400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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