Variant report

Variant	rs143535652
Chromosome Location	chr19:41857694-41857695
allele	-/GGGGGGCTCGCTGCTCG
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	PAX5	chr19:41856904-41857937	GM12878	blood:	n/a	chr19:41857481-41857490
3	EBF1	chr19:41857029-41857766	GM12878	blood:	n/a	n/a
4	EP300	chr19:41857315-41857827	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:41857045-41860285	Raji	blood:	n/a	n/a
6	CHD2	chr19:41857022-41857772	GM12878	blood:	n/a	chr19:41857560-41857570 chr19:41857326-41857336
7	RELA	chr19:41856973-41858084	GM18505	blood:	n/a	n/a
8	POLR2A	chr19:41857396-41857852	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr19:41856523-41857782	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
10	POLR2A	chr19:41857377-41857797	K562	blood:	n/a	n/a
11	ATF2	chr19:41857154-41857880	GM12878	blood:	n/a	n/a
12	MAX	chr19:41857155-41857838	ECC-1	luminal epithelium:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
13	MAX	chr19:41856991-41858060	MCF-7	breast:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
14	USF1	chr19:41857373-41857781	A549	lung:	n/a	n/a
15	TAF1	chr19:41857212-41857784	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr19:41857028-41858014	GM12878	blood:	n/a	n/a
17	TCF12	chr19:41857317-41857772	GM12878	blood:	n/a	chr19:41857533-41857543
18	TBL1XR1	chr19:41856817-41857751	GM12878	blood:	n/a	n/a
19	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
20	MAX	chr19:41856625-41857767	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
21	POLR2A	chr19:41856737-41858059	K562	blood:	n/a	n/a
22	STAT5A	chr19:41857551-41858042	GM12878	blood:	n/a	chr19:41858012-41858024 chr19:41857995-41858006
23	MAX	chr19:41857073-41858154	SK-N-SH	brain:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
24	BACH1	chr19:41856815-41858775	H1-hESC	embryonic stem cell:	n/a	n/a
25	RELA	chr19:41856857-41859034	GM15510	blood:	n/a	n/a
26	POLR2A	chr19:41857086-41857872	GM10847	blood:	n/a	n/a
27	POLR2A	chr19:41857442-41857801	Gliobla	brain:	n/a	n/a
28	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
29	TAF1	chr19:41857493-41857832	GM12891	blood:	n/a	n/a
30	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
31	MYC	chr19:41856750-41857829	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
32	TAF1	chr19:41857468-41857796	K562	blood:	n/a	n/a
33	USF1	chr19:41857450-41857732	K562	blood:	n/a	n/a
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	USF1	chr19:41857367-41857723	GM12878	blood:	n/a	n/a
36	TFAP2A	chr19:41857041-41857838	Hela-S3	cervix:	n/a	chr19:41857376-41857384 chr19:41857376-41857384 chr19:41857376-41857384
37	EP300	chr19:41857345-41857744	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:41857324-41857907	U87	brain:	n/a	n/a
39	RUNX3	chr19:41856925-41859376	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:41856570-41860103	K562	blood:	n/a	n/a
41	USF1	chr19:41857378-41857724	ECC-1	luminal epithelium:	n/a	n/a
42	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
43	ZBTB7A	chr19:41857202-41857756	K562	blood:	n/a	n/a
44	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
45	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
46	TAF1	chr19:41857358-41857823	GM12878	blood:	n/a	n/a
47	RELA	chr19:41856929-41857850	GM10847	blood:	n/a	n/a
48	POLR2A	chr19:41856549-41857918	K562	blood:	n/a	n/a
49	POLR2A	chr19:41857081-41860454	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr19:41856676-41857947	HUVEC	blood vessel:	n/a	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	chr19:41819424..41822559-chr19:41857625..41859763,4	K562	blood:
11	chr19:41825498..41830119-chr19:41857290..41861615,7	MCF-7	breast:
12	chr19:41855237..41861298-chr19:41901562..41905286,5	K562	blood:
13	chr19:41849690..41854029-chr19:41856026..41859802,4	K562	blood:
14	chr19:41857011..41859392-chr19:42364268..42366443,2	K562	blood:
15	chr19:41855338..41857886-chr19:41930107..41932844,2	K562	blood:
16	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:
17	chr19:41857505..41859493-chr19:41897918..41900585,2	MCF-7	breast:
18	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
19	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
20	chr19:41856910..41863042-chr19:41867113..41873191,18	MCF-7	breast:

Variant related genes	Relation type
TGFB1	TF binding region
TMEM91	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000105372	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	chr19:41856800-41858000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:41856800-41858000	Active TSS	Colon Smooth Muscle	Colon
25	chr19:41856800-41858000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr19:41856800-41858000	Active TSS	Lung	lung
27	chr19:41856800-41858200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr19:41856800-41858400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:41856800-41858600	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr19:41856800-41859400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr19:41856800-41859400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
34	chr19:41856800-41859600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr19:41856800-41859600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr19:41856800-41860000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:41856800-41860000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:41856800-41860200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr19:41856800-41860200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41856800-41860200	Active TSS	HSMMtube	muscle
42	chr19:41856800-41860400	Active TSS	Aorta	Aorta
43	chr19:41856800-41860400	Active TSS	Ovary	ovary
44	chr19:41857000-41857800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
45	chr19:41857000-41858000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:41857000-41858000	Flanking Active TSS	Gastric	stomach
47	chr19:41857000-41858400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:41857000-41858400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr19:41857000-41858600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr19:41857000-41858600	Flanking Active TSS	Right Ventricle	heart

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