Variant report

Variant	rs59776537
Chromosome Location	chr19:38909013-38909014
allele	C/T
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	chr19:38908293-38909073	GM12878	blood:	n/a	chr19:38908925-38908938
2	MAX	chr19:38908366-38909320	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr19:38908451-38909342	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:38908222-38909016	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr19:38908128-38909374	K562	blood:	n/a	chr19:38908622-38908631 chr19:38908927-38908936
6	RAD21	chr19:38908289-38909186	H1-hESC	embryonic stem cell:	n/a	chr19:38908979-38908992 chr19:38908981-38908993
7	MAX	chr19:38908727-38909383	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr19:38908913-38909332	MCF-7	breast:	n/a	n/a
9	JUN	chr19:38908378-38909121	K562	blood:	n/a	chr19:38908622-38908631 chr19:38908927-38908936
10	MXI1	chr19:38908825-38909193	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr19:38908166-38909121	A549	lung:	n/a	chr19:38908617-38908629 chr19:38908906-38908916 chr19:38908587-38908598 chr19:38909015-38909027 chr19:38909017-38909026 chr19:38908624-38908633 chr19:38908623-38908632 chr19:38908624-38908633 chr19:38908617-38908629 chr19:38908816-38908826 chr19:38908812-38908826 chr19:38908619-38908628 chr19:38908618-38908628 chr19:38908906-38908915 chr19:38908815-38908827 chr19:38908576-38908587 chr19:38908905-38908917 chr19:38908907-38908916 chr19:38908815-38908827 chr19:38908622-38908634 chr19:38908618-38908627 chr19:38908907-38908916 chr19:38908906-38908916 chr19:38908817-38908826 chr19:38908619-38908628 chr19:38908617-38908628 chr19:38908614-38908627 chr19:38908905-38908917 chr19:38909015-38909027
12	TCF7L2	chr19:38908652-38909036	PANC-1	pancreas:	n/a	n/a
13	IRF1	chr19:38908394-38909033	K562	blood:	n/a	chr19:38908815-38908829 chr19:38908511-38908525 chr19:38908622-38908636 chr19:38908617-38908631 chr19:38908905-38908919
14	TCF7L2	chr19:38908672-38909054	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:38908754-38909199	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr19:38908339-38909031	K562	blood:	n/a	chr19:38908624-38908634 chr19:38908619-38908629
17	BCL3	chr19:38907989-38909324	A549	lung:	n/a	chr19:38908312-38908321
18	CTCF	chr19:38908952-38909037	H1-hESC	embryonic stem cell:	n/a	chr19:38908980-38908990
19	ATF2	chr19:38908650-38909071	H1-hESC	embryonic stem cell:	n/a	chr19:38908926-38908937
20	JUND	chr19:38908575-38909124	H1-hESC	embryonic stem cell:	n/a	chr19:38908622-38908631 chr19:38908927-38908936
21	SP4	chr19:38908317-38909033	H1-hESC	embryonic stem cell:	n/a	chr19:38908903-38908919 chr19:38908509-38908525 chr19:38908587-38908598 chr19:38908576-38908587 chr19:38908480-38908496 chr19:38908901-38908917 chr19:38908617-38908628
22	ATF2	chr19:38908528-38909040	H1-hESC	embryonic stem cell:	n/a	chr19:38908926-38908937
23	CCNT2	chr19:38908446-38909199	K562	blood:	n/a	chr19:38908816-38908825 chr19:38908906-38908915
24	JUND	chr19:38908792-38909080	HepG2	liver:	n/a	chr19:38908927-38908936
25	MYC	chr19:38908408-38909037	K562	blood:	n/a	n/a
26	CTCF	chr19:38908900-38909050	GM12864	blood:	n/a	chr19:38908980-38908990
27	TCF12	chr19:38908890-38909182	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr19:38908186-38909239	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr19:38908667-38909117	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr19:38908837-38909037	H1-hESC	embryonic stem cell:	n/a	chr19:38908927-38908936
31	CREB1	chr19:38908317-38909412	H1-hESC	embryonic stem cell:	n/a	chr19:38908925-38908938
32	ZBTB7A	chr19:38908824-38909083	K562	blood:	n/a	chr19:38909015-38909022
33	POLR2A	chr19:38908733-38909358	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:38908920-38909070	NHEK	skin:	n/a	chr19:38908980-38908990
35	CREB1	chr19:38908324-38909305	H1-hESC	embryonic stem cell:	n/a	chr19:38908925-38908938
36	ZEB1	chr19:38908903-38909284	GM12878	blood:	n/a	chr19:38909023-38909036
37	BHLHE40	chr19:38908173-38909076	K562	blood:	n/a	n/a
38	TCF7L2	chr19:38908334-38909232	HCT-116	colon:	n/a	n/a
39	MAX	chr19:38908328-38909277	ECC-1	luminal epithelium:	n/a	n/a
40	USF2	chr19:38908784-38909173	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr19:38908533-38909106	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELF1	chr19:38907881-38909204	GM12878	blood:	n/a	chr19:38908910-38908922 chr19:38908516-38908528
43	RAD21	chr19:38908517-38909101	H1-hESC	embryonic stem cell:	n/a	chr19:38908979-38908992 chr19:38908981-38908993
44	POLR2A	chr19:38908127-38909275	K562	blood:	n/a	n/a
45	POLR2A	chr19:38908338-38909147	K562	blood:	n/a	n/a
46	BRCA1	chr19:38908673-38909051	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr19:38908265-38909179	K562	blood:	n/a	n/a
48	MAZ	chr19:38908353-38909025	K562	blood:	n/a	n/a
49	CREB1	chr19:38908238-38909219	A549	lung:	n/a	chr19:38908925-38908938
50	MYC	chr19:38908903-38909162	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38892216..38894352-chr19:38908869..38910737,2	MCF-7	breast:
2	chr19:38825745..38829204-chr19:38906597..38909224,3	K562	blood:
3	chr19:38905986..38907549-chr19:38908405..38910906,2	MCF-7	breast:
4	chr19:38908423..38911258-chr19:38933222..38935389,2	MCF-7	breast:

Variant related genes	Relation type
RASGRP4	TF binding region
ENSG00000099338	Chromatin interaction
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10153497	1.00[AMR][1000 genomes]
rs11880285	1.00[AMR][1000 genomes]
rs11881714	1.00[AMR][1000 genomes]
rs2286548	1.00[AMR][1000 genomes]
rs2302185	1.00[AMR][1000 genomes]
rs45589333	1.00[AMR][1000 genomes]
rs57249964	1.00[AMR][1000 genomes]
rs57347571	1.00[AMR][1000 genomes]
rs57361474	1.00[AMR][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58490212	1.00[AMR][1000 genomes]
rs58591078	1.00[AMR][1000 genomes]
rs59047386	1.00[AMR][1000 genomes]
rs59845491	1.00[AMR][1000 genomes]
rs60068553	1.00[AMR][1000 genomes]
rs60491875	1.00[AMR][1000 genomes]
rs61648033	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38907400-38909400	Enhancers	Lung	lung
2	chr19:38908000-38909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:38908000-38909200	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:38908000-38909200	Flanking Active TSS	K562	blood
5	chr19:38908000-38909400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:38908200-38909200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:38908200-38909200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr19:38908200-38909200	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr19:38908200-38909200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:38908200-38909200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr19:38908200-38909200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:38908200-38909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:38908200-38909200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:38908200-38909200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:38908200-38909200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr19:38908200-38909200	Flanking Active TSS	GM12878-XiMat	blood
17	chr19:38908200-38909400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:38908200-38909600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:38908400-38909200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:38908400-38909200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:38908400-38909200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:38908400-38909200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:38908400-38909200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr19:38908400-38909200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr19:38908400-38909200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr19:38908400-38909200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr19:38908400-38909200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr19:38908400-38909400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr19:38908400-38909400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:38908400-38909400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr19:38908400-38909400	Bivalent Enhancer	Fetal Brain Male	brain
32	chr19:38908600-38909200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr19:38908600-38909200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:38908600-38909200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:38908600-38909200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
36	chr19:38908600-38909200	Flanking Active TSS	Esophagus	oesophagus
37	chr19:38908600-38909200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:38908600-38909200	Flanking Active TSS	HMEC	breast
39	chr19:38908600-38909800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
40	chr19:38908800-38909200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:38908800-38909200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:38908800-38909200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr19:38908800-38909200	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr19:38908800-38909200	Flanking Active TSS	Gastric	stomach
45	chr19:38908800-38909200	Enhancers	Ovary	ovary
46	chr19:38908800-38909200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:38908800-38909200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:38908800-38909200	Flanking Active TSS	Spleen	Spleen
49	chr19:38908800-38909400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr19:38908800-38909400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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