Variant report

Variant	rs539923435
Chromosome Location	chr19:41857186-41857187
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	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	ZMIZ1	chr19:41856622-41857212	K562	blood:	n/a	n/a
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	POLR2A	chr19:41857028-41858014	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr19:41856817-41857751	GM12878	blood:	n/a	n/a
22	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
23	MAX	chr19:41856625-41857767	K562	blood:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
24	POLR2A	chr19:41856737-41858059	K562	blood:	n/a	n/a
25	MAX	chr19:41857073-41858154	SK-N-SH	brain:	n/a	chr19:41857572-41857588 chr19:41857583-41857592 chr19:41857570-41857579 chr19:41857580-41857590
26	BACH1	chr19:41856815-41858775	H1-hESC	embryonic stem cell:	n/a	n/a
27	RELA	chr19:41856857-41859034	GM15510	blood:	n/a	n/a
28	POLR2A	chr19:41857086-41857872	GM10847	blood:	n/a	n/a
29	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
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	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
33	TFAP2A	chr19:41857041-41857838	Hela-S3	cervix:	n/a	chr19:41857376-41857384 chr19:41857376-41857384 chr19:41857376-41857384
34	RUNX3	chr19:41856925-41859376	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:41856570-41860103	K562	blood:	n/a	n/a
36	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
37	FOSL2	chr19:41856932-41857370	A549	lung:	n/a	n/a
38	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
39	IRF1	chr19:41856521-41857546	K562	blood:	n/a	chr19:41857393-41857407 chr19:41857346-41857360
40	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
41	ETS1	chr19:41856723-41857526	K562	blood:	n/a	chr19:41857400-41857411
42	RELA	chr19:41856929-41857850	GM10847	blood:	n/a	n/a
43	POLR2A	chr19:41856549-41857918	K562	blood:	n/a	n/a
44	POLR2A	chr19:41857081-41860454	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr19:41856676-41857947	HUVEC	blood vessel:	n/a	n/a
46	HEY1	chr19:41856616-41858202	K562	blood:	n/a	n/a
47	MYC	chr19:41857112-41857456	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:41857094-41857881	GM15510	blood:	n/a	n/a
49	CTCF	chr19:41856797-41862442	A549	lung:	n/a	chr19:41858550-41858559 chr19:41859909-41859918 chr19:41858546-41858559 chr19:41859459-41859472 chr19:41859906-41859924 chr19:41860035-41860053 chr19:41858544-41858562 chr19:41860037-41860050 chr19:41858547-41858557 chr19:41859906-41859919
50	CREB1	chr19:41856924-41857885	GM12878	blood:	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	chr19:41854267..41857215-chr19:41859856..41862250,3	MCF-7	breast:
8	chr19:41825075..41827405-chr19:41857006..41859375,3	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
ENSG00000268475	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000105329	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	chr19:41854800-41857200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr19:41854800-41857200	Enhancers	Spleen	Spleen
3	chr19:41855000-41857200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:41855000-41859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:41855200-41857200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr19:41855800-41857200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:41855800-41857200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr19:41856000-41857200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr19:41856000-41857200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:41856000-41860400	Active TSS	Osteobl	bone
11	chr19:41856400-41857200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:41856400-41858200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:41856400-41859000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:41856400-41859600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr19:41856400-41859600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:41856400-41860200	Active TSS	NH-A	brain
17	chr19:41856600-41857200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr19:41856600-41857200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr19:41856600-41857200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr19:41856600-41857200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:41856600-41857200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:41856600-41857200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:41856600-41857200	Flanking Active TSS	Esophagus	oesophagus
24	chr19:41856600-41857200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:41856600-41857200	Flanking Active TSS	Right Atrium	heart
26	chr19:41856600-41857200	Flanking Active TSS	NHEK	skin
27	chr19:41856600-41857400	Flanking Active TSS	A549	lung
28	chr19:41856600-41857800	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr19:41856600-41858000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr19:41856600-41858400	Flanking Active TSS	Fetal Thymus	thymus
31	chr19:41856600-41858600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr19:41856600-41859200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr19:41856600-41859600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr19:41856600-41859600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr19:41856600-41859800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:41856600-41859800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:41856600-41859800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr19:41856600-41860000	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:41856600-41860200	Active TSS	HUVEC	blood vessel
41	chr19:41856600-41860400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:41856600-41860400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:41856800-41857200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:41856800-41857200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr19:41856800-41857200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr19:41856800-41857200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr19:41856800-41857200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:41856800-41857200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:41856800-41857200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:41856800-41857200	Flanking Active TSS	Brain Anterior Caudate	brain

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