Variant report

Variant	rs146504446
Chromosome Location	chr19:41857277-41857278
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	TEAD4	chr19:41856485-41857438	K562	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	MAZ	chr19:41856523-41857782	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
12	YY1	chr19:41857029-41857532	K562	blood:	n/a	chr19:41857333-41857347 chr19:41857401-41857415 chr19:41857276-41857290 chr19:41857400-41857409 chr19:41857330-41857344
13	ATF2	chr19:41857154-41857880	GM12878	blood:	n/a	n/a
14	MAX	chr19:41857155-41857838	ECC-1	luminal epithelium:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
15	EGR1	chr19:41857214-41857589	K562	blood:	n/a	chr19:41857398-41857411 chr19:41857377-41857387 chr19:41857433-41857447 chr19:41857346-41857356
16	POLR2A	chr19:41857186-41857577	A549	lung:	n/a	n/a
17	MAX	chr19:41856991-41858060	MCF-7	breast:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
18	POLR2A	chr19:41856948-41857347	GM12891	blood:	n/a	n/a
19	PAX5	chr19:41857067-41857537	GM12878	blood:	n/a	chr19:41857481-41857490
20	RFX5	chr19:41857196-41857510	GM12878	blood:	n/a	n/a
21	TAF1	chr19:41857212-41857784	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr19:41857028-41858014	GM12878	blood:	n/a	n/a
23	TBL1XR1	chr19:41856817-41857751	GM12878	blood:	n/a	n/a
24	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
25	MAX	chr19:41856625-41857767	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
26	POLR2A	chr19:41856737-41858059	K562	blood:	n/a	n/a
27	MAX	chr19:41857073-41858154	SK-N-SH	brain:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
28	BACH1	chr19:41856815-41858775	H1-hESC	embryonic stem cell:	n/a	n/a
29	RELA	chr19:41856857-41859034	GM15510	blood:	n/a	n/a
30	POLR2A	chr19:41857086-41857872	GM10847	blood:	n/a	n/a
31	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
32	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
33	MYC	chr19:41856750-41857829	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
34	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
35	TFAP2A	chr19:41857041-41857838	Hela-S3	cervix:	n/a	chr19:41857376-41857384 chr19:41857376-41857384 chr19:41857376-41857384
36	RUNX3	chr19:41856925-41859376	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:41856570-41860103	K562	blood:	n/a	n/a
38	EGR1	chr19:41857125-41860328	HCT-116	colon:	n/a	chr19:41859860-41859873 chr19:41859954-41859964 chr19:41858015-41858029 chr19:41859952-41859965 chr19:41858019-41858029 chr19:41858018-41858031 chr19:41859955-41859964 chr19:41859818-41859832 chr19:41859601-41859616 chr19:41859896-41859909 chr19:41858249-41858259 chr19:41859952-41859966 chr19:41859953-41859964 chr19:41859367-41859380 chr19:41859952-41859965 chr19:41858017-41858031 chr19:41857196-41857203 chr19:41857398-41857411 chr19:41859954-41859964 chr19:41857377-41857387 chr19:41858019-41858030 chr19:41859899-41859909 chr19:41859605-41859615 chr19:41858018-41858031 chr19:41857433-41857447 chr19:41859952-41859965 chr19:41859898-41859908 chr19:41859952-41859965 chr19:41859896-41859909 chr19:41859603-41859614 chr19:41858953-41858963 chr19:41859602-41859615 chr19:41859899-41859908 chr19:41857346-41857356 chr19:41859605-41859614 chr19:41858249-41858262 chr19:41858019-41858028 chr19:41858018-41858031 chr19:41859948-41859970 chr19:41859602-41859615 chr19:41859896-41859909 chr19:41859896-41859909 chr19:41859994-41860007 chr19:41858012-41858025 chr19:41859953-41859964 chr19:41858017-41858032 chr19:41858018-41858031 chr19:41859602-41859615
39	ZBTB7A	chr19:41857202-41857756	K562	blood:	n/a	n/a
40	FOSL2	chr19:41856932-41857370	A549	lung:	n/a	n/a
41	EP300	chr19:41857136-41860666	A549	lung:	n/a	chr19:41859612-41859621 chr19:41859818-41859827 chr19:41858958-41858967 chr19:41859820-41859836 chr19:41859824-41859840 chr19:41857991-41858005 chr19:41859906-41859922 chr19:41859607-41859616 chr19:41858544-41858553
42	IRF1	chr19:41856521-41857546	K562	blood:	n/a	chr19:41857393-41857407 chr19:41857346-41857360
43	MAX	chr19:41856530-41860266	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41859954-41859963 chr19:41859602-41859612 chr19:41857570-41857579 chr19:41857580-41857590 chr19:41858446-41858456
44	ETS1	chr19:41856723-41857526	K562	blood:	n/a	chr19:41857400-41857411
45	RELA	chr19:41856929-41857850	GM10847	blood:	n/a	n/a
46	POLR2A	chr19:41856549-41857918	K562	blood:	n/a	n/a
47	POLR2A	chr19:41857081-41860454	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr19:41856676-41857947	HUVEC	blood vessel:	n/a	n/a
49	HEY1	chr19:41856616-41858202	K562	blood:	n/a	n/a
50	MYC	chr19:41857112-41857456	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41857250-41857300	RPTEC	kidney:	n/a
2	chr19:41857250-41857300	ovcar-3	ovarian:	n/a
3	chr19:41857250-41857300	SKMC	muscle:	n/a
4	chr19:41857250-41857300	ECC-1	luminal epithelium:	n/a
5	chr19:41857250-41857300	Hela-S3	cervix:	n/a
6	chr19:41857250-41857300	Hepatocyte	liver:	n/a
7	chr19:41857250-41857300	NHDF-neo	bronchial:	n/a
8	chr19:41857250-41857300	SK-N-MC	brain:	n/a
9	chr19:41857250-41857300	MCF-7	breast:	n/a
10	chr19:41857250-41857300	BE2_C	brain:	n/a
11	chr19:41857250-41857300	AG10803	skin:	n/a
12	chr19:41857250-41857300	GM12892	blood:	n/a
13	chr19:41857250-41857300	AG04449	skin:	fetal
14	chr19:41857250-41857300	T-47D	breast:	n/a
15	chr19:41857250-41857300	H1-hESC	embryonic stem cell:	embryo
16	chr19:41857250-41857300	HRE	kidney:	n/a
17	chr19:41857250-41857300	GM12878	blood:	n/a
18	chr19:41857250-41857300	CMK	blood:	n/a
19	chr19:41857250-41857300	GM12891	blood:	n/a
20	chr19:41857250-41857300	HRCEpiC	kidney:	n/a
21	chr19:41857250-41857300	AG04450	lung:	fetal
22	chr19:41857250-41857300	K562	blood:	n/a
23	chr19:41857250-41857300	GM19239	blood:	n/a
24	chr19:41857250-41857300	AG09309	skin:	n/a
25	chr19:41857250-41857300	SK-N-SH	brain:	n/a
26	chr19:41857250-41857300	AG09319	gingival:	n/a
27	chr19:41857250-41857300	HCF	heart:	n/a
28	chr19:41857250-41857300	HCPEpiC	choroid plexus:	n/a
29	chr19:41857250-41857300	HUVEC	blood vessel:	n/a
30	chr19:41857250-41857300	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:41857250-41857300	PFSK-1	brain:	n/a
32	chr19:41857250-41857300	PANC-1	pancreas:	n/a
33	chr19:41857250-41857300	SAEC	small airway:	n/a
34	chr19:41857250-41857300	Caco-2	colon:	n/a
35	chr19:41857250-41857300	HEEpiC	esophagus:	n/a
36	chr19:41857250-41857300	GM06990	blood:	n/a
37	chr19:41857250-41857300	NT2-D1	testis:	n/a
38	chr19:41857250-41857300	BJ	skin:	n/a
39	chr19:41857250-41857300	HepG2	liver:	n/a
40	chr19:41857250-41857300	HNPCEpiC	eye:	n/a
41	chr19:41857250-41857300	NHBE	bronchial:	n/a
42	chr19:41857250-41857300	NH-A	brain:	n/a
43	chr19:41857250-41857300	HIPEpiC	eye:	n/a
44	chr19:41857250-41857300	NB4	blood:	n/a
45	chr19:41857250-41857300	HCM	heart:	n/a
46	chr19:41857250-41857300	PrEC	prostate:	n/a
47	chr19:41857250-41857300	MCF10A-Er-Src	breast:	n/a
48	chr19:41857250-41857300	Jurkat	blood:	n/a
49	chr19:41857250-41857300	LNCaP	prostate:	n/a
50	chr19:41857250-41857300	HMEC	breast:	n/a

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	chr19:41855237..41861298-chr19:41901562..41905286,5	K562	blood:
11	chr19:41849690..41854029-chr19:41856026..41859802,4	K562	blood:
12	chr19:41857011..41859392-chr19:42364268..42366443,2	K562	blood:
13	chr19:41855338..41857886-chr19:41930107..41932844,2	K562	blood:
14	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:
15	chr19:41814701..41816825-chr19:41855352..41857612,2	K562	blood:
16	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
17	chr19:41856910..41863042-chr19:41867113..41873191,18	MCF-7	breast:
18	chr19:41855697..41857432-chr19:41868390..41870729,2	K562	blood:

Variant related genes	Relation type
TMEM91	TF binding region
TGFB1	TF binding region
TMEM91	CpG island
TGFB1	CpG island
ENSG00000142039	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000248098	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	chr19:41856600-41857400	Flanking Active TSS	A549	lung
9	chr19:41856600-41857800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr19:41856600-41858000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:41856600-41858400	Flanking Active TSS	Fetal Thymus	thymus
12	chr19:41856600-41858600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
13	chr19:41856600-41859200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:41856600-41859600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr19:41856600-41859800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:41856600-41859800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr19:41856600-41859800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr19:41856600-41860000	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:41856600-41860200	Active TSS	HUVEC	blood vessel
22	chr19:41856600-41860400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41856600-41860400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:41856800-41857400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:41856800-41857400	Active TSS	Brain Angular Gyrus	brain
26	chr19:41856800-41857400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:41856800-41857400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr19:41856800-41857400	Flanking Active TSS	HMEC	breast
29	chr19:41856800-41857600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr19:41856800-41858000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:41856800-41858000	Active TSS	Colon Smooth Muscle	Colon
32	chr19:41856800-41858000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr19:41856800-41858000	Active TSS	Lung	lung
34	chr19:41856800-41858200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr19:41856800-41858400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:41856800-41858600	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr19:41856800-41859400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
41	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr19:41856800-41860000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:41856800-41860000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:41856800-41860200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr19:41856800-41860200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:41856800-41860200	Active TSS	HSMMtube	muscle
49	chr19:41856800-41860400	Active TSS	Aorta	Aorta
50	chr19:41856800-41860400	Active TSS	Ovary	ovary

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