Variant report

Variant	rs564292089
Chromosome Location	chr19:41857476-41857477
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	E2F6	chr19:41857063-41858047	A549	lung:	n/a	chr19:41857323-41857335 chr19:41857397-41857406
2	RCOR1	chr19:41856617-41857557	K562	blood:	n/a	n/a
3	BHLHE40	chr19:41856847-41857684	K562	blood:	n/a	n/a
4	PAX5	chr19:41856904-41857937	GM12878	blood:	n/a	chr19:41857481-41857490
5	EBF1	chr19:41857029-41857766	GM12878	blood:	n/a	n/a
6	ELF1	chr19:41856981-41857689	GM12878	blood:	n/a	chr19:41857400-41857409 chr19:41857377-41857389
7	EP300	chr19:41857315-41857827	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:41857045-41860285	Raji	blood:	n/a	n/a
9	CHD2	chr19:41857022-41857772	GM12878	blood:	n/a	chr19:41857560-41857570 chr19:41857326-41857336
10	RELA	chr19:41856973-41858084	GM18505	blood:	n/a	n/a
11	POLR2A	chr19:41857396-41857852	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr19:41856523-41857782	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
13	YY1	chr19:41857029-41857532	K562	blood:	n/a	chr19:41857333-41857347 chr19:41857401-41857415 chr19:41857276-41857290 chr19:41857400-41857409 chr19:41857330-41857344
14	POLR2A	chr19:41857377-41857797	K562	blood:	n/a	n/a
15	ATF2	chr19:41857154-41857880	GM12878	blood:	n/a	n/a
16	MAX	chr19:41857155-41857838	ECC-1	luminal epithelium:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
17	EGR1	chr19:41857214-41857589	K562	blood:	n/a	chr19:41857398-41857411 chr19:41857377-41857387 chr19:41857433-41857447 chr19:41857346-41857356
18	POLR2A	chr19:41857186-41857577	A549	lung:	n/a	n/a
19	MAX	chr19:41856991-41858060	MCF-7	breast:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
20	POLR2A	chr19:41857438-41857479	ProgFib	skin:	n/a	n/a
21	PAX5	chr19:41857067-41857537	GM12878	blood:	n/a	chr19:41857481-41857490
22	E2F4	chr19:41857343-41857626	MCF10A-Er-Src	breast:	n/a	chr19:41857397-41857406
23	E2F4	chr19:41857279-41857590	GM12878	blood:	n/a	chr19:41857323-41857335 chr19:41857397-41857406
24	RFX5	chr19:41857196-41857510	GM12878	blood:	n/a	n/a
25	USF1	chr19:41857373-41857781	A549	lung:	n/a	n/a
26	TAF1	chr19:41857212-41857784	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr19:41857028-41858014	GM12878	blood:	n/a	n/a
28	TCF12	chr19:41857317-41857772	GM12878	blood:	n/a	chr19:41857533-41857543
29	TBL1XR1	chr19:41856817-41857751	GM12878	blood:	n/a	n/a
30	MAX	chr19:41856624-41860600	A549	lung:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41859954-41859963 chr19:41859602-41859612 chr19:41857570-41857579 chr19:41860271-41860281 chr19:41857580-41857590 chr19:41858446-41858456
31	MAX	chr19:41856625-41857767	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
32	POLR2A	chr19:41856737-41858059	K562	blood:	n/a	n/a
33	MAX	chr19:41857073-41858154	SK-N-SH	brain:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
34	BACH1	chr19:41856815-41858775	H1-hESC	embryonic stem cell:	n/a	n/a
35	RELA	chr19:41856857-41859034	GM15510	blood:	n/a	n/a
36	POLR2A	chr19:41857086-41857872	GM10847	blood:	n/a	n/a
37	POLR2A	chr19:41857442-41857801	Gliobla	brain:	n/a	n/a
38	BCL3	chr19:41856816-41860720	A549	lung:	n/a	chr19:41859822-41859835 chr19:41859815-41859828 chr19:41858068-41858077 chr19:41859817-41859826 chr19:41858567-41858580 chr19:41857461-41857470 chr19:41859608-41859617 chr19:41859895-41859908 chr19:41859820-41859829 chr19:41859816-41859829 chr19:41859611-41859620 chr19:41859891-41859904 chr19:41860015-41860024 chr19:41858958-41858971 chr19:41857460-41857469 chr19:41857880-41857889
39	ZNF263	chr19:41856517-41860463	HEK293-T-REx	kidney:	n/a	chr19:41857938-41857947 chr19:41859566-41859587 chr19:41856683-41856692 chr19:41860268-41860277 chr19:41857559-41857568 chr19:41856680-41856689 chr19:41857737-41857746 chr19:41856677-41856686
40	MYC	chr19:41856750-41857829	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
41	TAF1	chr19:41857468-41857796	K562	blood:	n/a	n/a
42	USF1	chr19:41857450-41857732	K562	blood:	n/a	n/a
43	POLR2A	chr19:41857462-41857687	HepG2	liver:	n/a	n/a
44	MAZ	chr19:41856450-41860693	IMR90	lung:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41859954-41859963 chr19:41859602-41859612 chr19:41857570-41857579 chr19:41860271-41860281 chr19:41857580-41857590 chr19:41858446-41858456
45	MXI1	chr19:41857356-41857644	HepG2	liver:	n/a	chr19:41857580-41857589 chr19:41857582-41857591
46	USF1	chr19:41857367-41857723	GM12878	blood:	n/a	n/a
47	TFAP2A	chr19:41857041-41857838	Hela-S3	cervix:	n/a	chr19:41857376-41857384 chr19:41857376-41857384 chr19:41857376-41857384
48	EP300	chr19:41857345-41857744	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:41857324-41857907	U87	brain:	n/a	n/a
50	RUNX3	chr19:41856925-41859376	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41857456-41857506	GM12891	blood:	n/a
2	chr19:41857456-41857506	HCPEpiC	choroid plexus:	n/a
3	chr19:41857456-41857506	K562	blood:	n/a
4	chr19:41857456-41857506	U87	brain:	n/a
5	chr19:41857456-41857506	SKMC	muscle:	n/a
6	chr19:41857456-41857506	GM19239	blood:	n/a
7	chr19:41857456-41857506	NH-A	brain:	n/a
8	chr19:41857456-41857506	HEK293	kidney:	embryo
9	chr19:41857456-41857506	HRCEpiC	kidney:	n/a
10	chr19:41857456-41857506	HIPEpiC	eye:	n/a
11	chr19:41857456-41857506	HAEpiC	amniotic membrane:	n/a
12	chr19:41857456-41857506	ovcar-3	ovarian:	n/a
13	chr19:41857456-41857506	AG09309	skin:	n/a
14	chr19:41857456-41857506	H1-hESC	embryonic stem cell:	embryo
15	chr19:41857456-41857506	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:41857456-41857506	Hepatocyte	liver:	n/a
17	chr19:41857456-41857506	RPTEC	kidney:	n/a
18	chr19:41857456-41857506	HRPEpiC	eye:	n/a
19	chr19:41857456-41857506	CMK	blood:	n/a
20	chr19:41857456-41857506	GM12878	blood:	n/a
21	chr19:41857456-41857506	SAEC	small airway:	n/a
22	chr19:41857456-41857506	MCF-7	breast:	n/a
23	chr19:41857456-41857506	HEEpiC	esophagus:	n/a
24	chr19:41857456-41857506	AG04449	skin:	fetal
25	chr19:41857456-41857506	NB4	blood:	n/a
26	chr19:41857456-41857506	SK-N-SH	brain:	n/a
27	chr19:41857456-41857506	HNPCEpiC	eye:	n/a
28	chr19:41857456-41857506	HMEC	breast:	n/a
29	chr19:41857456-41857506	HCF	heart:	n/a
30	chr19:41857456-41857506	PANC-1	pancreas:	n/a
31	chr19:41857456-41857506	ProgFib	skin:	n/a
32	chr19:41857456-41857506	HUVEC	blood vessel:	n/a
33	chr19:41857456-41857506	T-47D	breast:	n/a
34	chr19:41857456-41857506	ECC-1	luminal epithelium:	n/a
35	chr19:41857456-41857506	BE2_C	brain:	n/a
36	chr19:41857456-41857506	PFSK-1	brain:	n/a
37	chr19:41857456-41857506	HL-60	blood:	n/a
38	chr19:41857456-41857506	AG09319	gingival:	n/a
39	chr19:41857456-41857506	LNCaP	prostate:	n/a
40	chr19:41857456-41857506	Hela-S3	cervix:	n/a
41	chr19:41857456-41857506	A549	lung:	n/a
42	chr19:41857456-41857506	HCT-116	colon:	n/a
43	chr19:41857456-41857506	HepG2	liver:	n/a
44	chr19:41857456-41857506	PrEC	prostate:	n/a
45	chr19:41857456-41857506	MCF10A-Er-Src	breast:	n/a
46	chr19:41857456-41857506	NHDF-neo	bronchial:	n/a
47	chr19:41857456-41857506	Caco-2	colon:	n/a
48	chr19:41857456-41857506	HCM	heart:	n/a
49	chr19:41857456-41857506	NHBE	bronchial:	n/a
50	chr19:41857456-41857506	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
2	chr19:41813131..41816938-chr19:41856231..41860417,4	MCF-7	breast:
3	chr19:41855447..41861218-chr19:41901143..41905435,7	MCF-7	breast:
4	chr19:41857134..41858690-chr19:41874014..41875708,2	MCF-7	breast:
5	chr19:41847648..41852200-chr19:41855915..41861192,6	MCF-7	breast:
6	chr19:41856329..41860180-chr19:41901826..41904297,4	K562	blood:
7	chr19:41825075..41827405-chr19:41857006..41859375,3	MCF-7	breast:
8	chr19:41852616..41854424-chr19:41857248..41859687,2	MCF-7	breast:
9	chr19:41856174..41858570-chr19:41902142..41904818,3	MCF-7	breast:
10	chr19:41825498..41830119-chr19:41857290..41861615,7	MCF-7	breast:
11	chr19:41855237..41861298-chr19:41901562..41905286,5	K562	blood:
12	chr19:41849690..41854029-chr19:41856026..41859802,4	K562	blood:
13	chr19:41857011..41859392-chr19:42364268..42366443,2	K562	blood:
14	chr19:41855338..41857886-chr19:41930107..41932844,2	K562	blood:
15	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:
16	chr19:41814701..41816825-chr19:41855352..41857612,2	K562	blood:
17	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
18	chr19:41856910..41863042-chr19:41867113..41873191,18	MCF-7	breast:

Variant related genes	Relation type
TGFB1	TF binding region
TMEM91	TF binding region
TMEM91	CpG island
TGFB1	CpG island
ENSG00000142039	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802868	chr19:41856886-41869392	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
2	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 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	chr19:41855000-41859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:41856000-41860400	Active TSS	Osteobl	bone
3	chr19:41856400-41858200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:41856400-41859000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:41856400-41859600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr19:41856400-41859600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:41856400-41860200	Active TSS	NH-A	brain
8	chr19:41856600-41857800	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr19:41856600-41858000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:41856600-41858400	Flanking Active TSS	Fetal Thymus	thymus
11	chr19:41856600-41858600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
12	chr19:41856600-41859200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr19:41856600-41859600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr19:41856600-41859800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:41856600-41859800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr19:41856600-41859800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr19:41856600-41860000	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:41856600-41860200	Active TSS	HUVEC	blood vessel
21	chr19:41856600-41860400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:41856600-41860400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:41856800-41857600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr19:41856800-41858000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:41856800-41858000	Active TSS	Colon Smooth Muscle	Colon
26	chr19:41856800-41858000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr19:41856800-41858000	Active TSS	Lung	lung
28	chr19:41856800-41858200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr19:41856800-41858400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:41856800-41858600	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr19:41856800-41859400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
35	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr19:41856800-41860000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:41856800-41860000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr19:41856800-41860200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr19:41856800-41860200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:41856800-41860200	Active TSS	HSMMtube	muscle
43	chr19:41856800-41860400	Active TSS	Aorta	Aorta
44	chr19:41856800-41860400	Active TSS	Ovary	ovary
45	chr19:41857000-41857600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:41857000-41857600	Bivalent Enhancer	Fetal Heart	heart
47	chr19:41857000-41857800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
48	chr19:41857000-41858000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:41857000-41858000	Flanking Active TSS	Gastric	stomach
50	chr19:41857000-41858400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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