Variant report

Variant	rs61739448
Chromosome Location	chr19:36001313-36001314
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	MAZ	chr19:36000155-36001603	GM12878	blood:	n/a	chr19:36000284-36000295 chr19:36000285-36000294 chr19:36000281-36000296 chr19:36000284-36000295 chr19:36000285-36000294 chr19:36000284-36000294 chr19:36000285-36000295 chr19:36000285-36000294
2	POLR2A	chr19:36000074-36001567	MCF10A-Er-Src	breast:	n/a	n/a
3	SP1	chr19:36001207-36001623	GM12878	blood:	n/a	chr19:36001408-36001419
4	POLR2A	chr19:36000652-36001471	GM12891	blood:	n/a	n/a
5	CTCF	chr19:36001222-36001577	ECC-1	luminal epithelium:	n/a	chr19:36001453-36001471 chr19:36001458-36001468 chr19:36001456-36001469 chr19:36001456-36001465 chr19:36001455-36001476 chr19:36001453-36001466 chr19:36001454-36001470
6	TAF1	chr19:36000774-36001449	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr19:36001138-36001804	MCF-7	breast:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
8	CEBPD	chr19:36001231-36001487	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:36000206-36001663	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr19:36001231-36001674	Hela-S3	cervix:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
11	CTCF	chr19:36001313-36001607	MCF-7	breast:	n/a	chr19:36001453-36001471 chr19:36001458-36001468 chr19:36001456-36001469 chr19:36001456-36001465 chr19:36001455-36001476 chr19:36001453-36001466 chr19:36001454-36001470
12	RAD21	chr19:36001186-36001581	HepG2	liver:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
13	CTCF	chr19:36000009-36002281	A549	lung:	n/a	chr19:36001453-36001471 chr19:36001458-36001468 chr19:36001456-36001469 chr19:36001456-36001465 chr19:36001455-36001476 chr19:36001453-36001466 chr19:36001454-36001470
14	RCOR1	chr19:36001286-36001632	K562	blood:	n/a	n/a
15	RAD21	chr19:36001211-36001637	HepG2	liver:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
16	RAD21	chr19:36001028-36001665	H1-hESC	embryonic stem cell:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
17	POLR2A	chr19:36001071-36001460	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr19:36000573-36001644	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:36000075-36001643	GM12892	blood:	n/a	n/a
20	YY1	chr19:36000747-36001604	A549	lung:	n/a	n/a
21	POU2F2	chr19:36000664-36001617	GM12891	blood:	n/a	n/a
22	ZBTB7A	chr19:36001102-36001704	ECC-1	luminal epithelium:	n/a	n/a
23	STAT3	chr19:36001198-36001709	MCF10A-Er-Src	breast:	n/a	chr19:36001529-36001537 chr19:36001527-36001538
24	PML	chr19:36000126-36001768	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:36000203-36001516	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:36001159-36001475	HepG2	liver:	n/a	n/a
27	CHD2	chr19:36000985-36001583	GM12878	blood:	n/a	n/a
28	TCF12	chr19:36001124-36001581	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr19:36001178-36001733	K562	blood:	n/a	n/a
30	MAX	chr19:36000823-36001741	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:36000189-36001534	GM12892	blood:	n/a	n/a
32	YY1	chr19:36000655-36001643	H1-hESC	embryonic stem cell:	n/a	n/a
33	CUX1	chr19:36001096-36001522	GM12878	blood:	n/a	n/a
34	CTCF	chr19:36001257-36001558	T-47D	breast:	n/a	chr19:36001453-36001471 chr19:36001458-36001468 chr19:36001456-36001469 chr19:36001456-36001465 chr19:36001455-36001476 chr19:36001453-36001466 chr19:36001454-36001470
35	MYC	chr19:36000903-36001578	H1-hESC	embryonic stem cell:	n/a	n/a
36	RCOR1	chr19:36001163-36001622	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:36001248-36001536	GM12878	blood:	n/a	n/a
38	JUND	chr19:36001216-36001545	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:36000201-36001583	GM12878	blood:	n/a	n/a
40	EGR1	chr19:36001266-36001559	K562	blood:	n/a	chr19:36001405-36001419
41	POLR2A	chr19:36001126-36001433	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:36000139-36001611	GM12878	blood:	n/a	n/a
43	EBF1	chr19:36000213-36001609	GM12878	blood:	n/a	chr19:36000780-36000791
44	KAP1	chr19:36000191-36001598	HEK293	kidney:	n/a	n/a
45	ZEB1	chr19:36001244-36001511	GM12878	blood:	n/a	chr19:36001493-36001500
46	ZBTB7A	chr19:36001291-36001577	K562	blood:	n/a	n/a
47	POLR2A	chr19:36000645-36001491	GM12892	blood:	n/a	n/a
48	RAD21	chr19:36001262-36001568	SK-N-SH_RA	brain:	n/a	chr19:36001459-36001471 chr19:36001455-36001469 chr19:36001459-36001469 chr19:36001457-36001470 chr19:36001454-36001473
49	SMC3	chr19:36001300-36001656	K562	blood:	n/a	chr19:36001455-36001469 chr19:36001455-36001462 chr19:36001459-36001469
50	CTCF	chr19:36001298-36001615	Fibrobl	skin:	n/a	chr19:36001453-36001471 chr19:36001458-36001468 chr19:36001456-36001469 chr19:36001456-36001465 chr19:36001455-36001476 chr19:36001453-36001466 chr19:36001454-36001470

No.	Distal block	Cell Line	Cell type
1	chr19:36000537..36003031-chr19:36034629..36037771,4	MCF-7	breast:
2	chr19:35999552..36006251-chr19:36031120..36038105,13	MCF-7	breast:
3	chr19:36001076..36001975-chr19:36035471..36036153,2	MCF-7	breast:
4	chr19:35759065..35761020-chr19:35999917..36001765,3	MCF-7	breast:
5	chr19:36000902..36001513-chr20:18488183..18489087,2	Hela-S3	cervix:
6	chr19:35757826..35762091-chr19:35999806..36002359,4	MCF-7	breast:
7	chr19:35990632..35993520-chr19:36000182..36002050,2	MCF-7	breast:
8	chr19:35991484..35996459-chr19:35997926..36003071,7	MCF-7	breast:
9	chr19:36000419..36002864-chr19:36103085..36105115,2	MCF-7	breast:
10	chr19:36000803..36002387-chr19:36018083..36020489,2	MCF-7	breast:
11	chr19:35985384..35987874-chr19:36000035..36002510,2	MCF-7	breast:
12	chr19:36000005..36002697-chr19:36003092..36004790,3	MCF-7	breast:
13	chr19:35999942..36003176-chr19:36022063..36025878,4	K562	blood:

Variant related genes	Relation type
DMKN	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000101310	Chromatin interaction
ENSG00000105679	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000188508	Chromatin interaction
ENSG00000189001	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000267626	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16970221	1.00[AMR][1000 genomes]
rs56778651	1.00[AMR][1000 genomes]
rs7249002	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv911628	chr19:35999491-36056253	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35999400-36001600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:35999400-36001600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:35999400-36001600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:35999600-36001600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:35999600-36001600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr19:35999600-36001600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:35999600-36001600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:35999800-36001400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:35999800-36001400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:35999800-36001400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:35999800-36001600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:35999800-36001600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr19:35999800-36001600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:35999800-36001600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:35999800-36001600	Active TSS	HMEC	breast
16	chr19:35999800-36001800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:35999800-36001800	Active TSS	Hela-S3	cervix
18	chr19:36000000-36001600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:36000000-36001600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:36000200-36001400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr19:36000200-36001600	Active TSS	Fetal Kidney	kidney
22	chr19:36000200-36001600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr19:36000200-36001600	Active TSS	Pancreas	Pancrea
24	chr19:36000200-36001800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:36000400-36001400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr19:36000400-36001400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36000400-36001400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr19:36000400-36001400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:36000400-36001400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
30	chr19:36000400-36001400	Active TSS	Aorta	Aorta
31	chr19:36000400-36001400	Bivalent/Poised TSS	Colonic Mucosa	Colon
32	chr19:36000400-36001400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr19:36000400-36001400	Active TSS	Ovary	ovary
34	chr19:36000400-36001600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr19:36000400-36001600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr19:36000400-36001600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:36000400-36001600	Bivalent/Poised TSS	Fetal Lung	lung
38	chr19:36000400-36001600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr19:36000400-36001600	Flanking Bivalent TSS/Enh	A549	lung
40	chr19:36000600-36001400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:36000600-36001400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:36000600-36001400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr19:36000600-36001400	Active TSS	Gastric	stomach
44	chr19:36000600-36001400	Active TSS	Right Atrium	heart
45	chr19:36000600-36001600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:36000600-36001600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:36000600-36001600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr19:36000600-36001600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr19:36000600-36001600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr19:36000600-36001600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum

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