Variant report

Variant	rs2883106
Chromosome Location	chr19:39813758-39813759
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	RAD21	chr19:39813544-39813985	A549	lung:	n/a	n/a
2	RAD21	chr19:39813616-39814038	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr19:39813531-39814138	HCT-116	colon:	n/a	n/a
4	RAD21	chr19:39813670-39814144	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr19:39813572-39814102	A549	lung:	n/a	n/a
6	ZBTB7A	chr19:39813719-39813865	K562	blood:	n/a	n/a
7	CTCF	chr19:39813680-39813830	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr19:39813680-39813830	HEK293	kidney:	n/a	n/a
9	CTCF	chr19:39813720-39813870	WERI-Rb-1	eye:	n/a	chr19:39813834-39813852
10	CTCF	chr19:39813740-39813890	HPF	lung:	n/a	chr19:39813834-39813852
11	CTCF	chr19:39813734-39813913	MCF-7	breast:	n/a	chr19:39813834-39813852
12	RAD21	chr19:39813695-39813931	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr19:39813724-39813967	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF263	chr19:39813610-39814052	HEK293-T-REx	kidney:	n/a	n/a
15	CTCF	chr19:39813740-39813890	HCT-116	colon:	n/a	chr19:39813834-39813852
16	EBF1	chr19:39813583-39813879	GM12878	blood:	n/a	chr19:39813743-39813753 chr19:39813743-39813752 chr19:39813741-39813754 chr19:39813743-39813752 chr19:39813742-39813753
17	CTCF	chr19:39813743-39813998	A549	lung:	n/a	chr19:39813834-39813852
18	RAD21	chr19:39813738-39813939	HepG2	liver:	n/a	n/a
19	CTCF	chr19:39813758-39813901	Gliobla	brain:	n/a	chr19:39813834-39813852
20	CTCF	chr19:39813740-39813890	GM12873	blood:	n/a	chr19:39813834-39813852
21	RAD21	chr19:39813561-39813954	MCF-7	breast:	n/a	n/a
22	EBF1	chr19:39813624-39813918	GM12878	blood:	n/a	chr19:39813743-39813753 chr19:39813743-39813752 chr19:39813741-39813754 chr19:39813743-39813752 chr19:39813742-39813753
23	CTCF	chr19:39813740-39813890	HEK293	kidney:	n/a	chr19:39813834-39813852
24	CTCF	chr19:39813720-39813870	NHLF	lung:	n/a	chr19:39813834-39813852
25	CTCF	chr19:39813741-39813912	T-47D	breast:	n/a	chr19:39813834-39813852
26	CTCF	chr19:39813724-39813924	MCF-7	breast:	n/a	chr19:39813834-39813852
27	CTCF	chr19:39813740-39813890	HCPEpiC	choroid plexus:	n/a	chr19:39813834-39813852
28	CTCF	chr19:39813740-39813890	HepG2	liver:	n/a	chr19:39813834-39813852
29	CTCF	chr19:39813720-39813870	HepG2	liver:	n/a	chr19:39813834-39813852
30	RAD21	chr19:39813585-39814047	HCT-116	colon:	n/a	n/a
31	CTCF	chr19:39813740-39813890	WERI-Rb-1	eye:	n/a	chr19:39813834-39813852
32	CTCF	chr19:39813660-39813810	A549	lung:	n/a	n/a
33	CTCF	chr19:39813700-39813850	GM12865	blood:	n/a	n/a
34	RAD21	chr19:39813651-39813922	HepG2	liver:	n/a	n/a
35	CTCF	chr19:39813528-39814086	HCT-116	colon:	n/a	chr19:39813834-39813852
36	CTCF	chr19:39813742-39813932	MCF-7	breast:	n/a	chr19:39813834-39813852
37	RAD21	chr19:39813584-39813954	HepG2	liver:	n/a	n/a
38	CTCF	chr19:39813720-39813870	HCM	heart:	n/a	chr19:39813834-39813852
39	CTCF	chr19:39813720-39813870	GM12864	blood:	n/a	chr19:39813834-39813852
40	CTCF	chr19:39813720-39813870	AG10803	skin:	n/a	chr19:39813834-39813852
41	CTCF	chr19:39813747-39813893	GM12891	blood:	n/a	chr19:39813834-39813852
42	RAD21	chr19:39813746-39813894	K562	blood:	n/a	n/a
43	CTCF	chr19:39813718-39813974	K562	blood:	n/a	chr19:39813834-39813852
44	RAD21	chr19:39813727-39813989	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr19:39813740-39813890	GM12866	blood:	n/a	chr19:39813834-39813852
46	RAD21	chr19:39813615-39814027	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:39813604-39814071	A549	lung:	n/a	chr19:39813834-39813852
48	RAD21	chr19:39813555-39814142	A549	lung:	n/a	n/a
49	CTCF	chr19:39813740-39813890	Caco-2	colon:	n/a	chr19:39813834-39813852
50	CTCF	chr19:39813497-39814320	A549	lung:	n/a	chr19:39813834-39813852

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39813728-39813778	AG04449	skin:	fetal
2	chr19:39813728-39813778	PFSK-1	brain:	n/a
3	chr19:39813728-39813778	HCT-116	colon:	n/a
4	chr19:39813728-39813778	HRPEpiC	eye:	n/a
5	chr19:39813728-39813778	U87	brain:	n/a
6	chr19:39813728-39813778	CMK	blood:	n/a
7	chr19:39813728-39813778	AG04450	lung:	fetal
8	chr19:39813728-39813778	HNPCEpiC	eye:	n/a
9	chr19:39813728-39813778	GM19239	blood:	n/a
10	chr19:39813728-39813778	T-47D	breast:	n/a
11	chr19:39813728-39813778	AG10803	skin:	n/a
12	chr19:39813728-39813778	AG09309	skin:	n/a
13	chr19:39813728-39813778	MCF10A-Er-Src	breast:	n/a
14	chr19:39813728-39813778	GM06990	blood:	n/a
15	chr19:39813728-39813778	MCF-7	breast:	n/a
16	chr19:39813728-39813778	NH-A	brain:	n/a
17	chr19:39813728-39813778	SAEC	small airway:	n/a
18	chr19:39813728-39813778	BJ	skin:	n/a
19	chr19:39813728-39813778	NB4	blood:	n/a
20	chr19:39813728-39813778	ovcar-3	ovarian:	n/a
21	chr19:39813728-39813778	Caco-2	colon:	n/a
22	chr19:39813728-39813778	HAEpiC	amniotic membrane:	n/a
23	chr19:39813728-39813778	HCF	heart:	n/a
24	chr19:39813728-39813778	AG09319	gingival:	n/a
25	chr19:39813728-39813778	SK-N-SH	brain:	n/a
26	chr19:39813728-39813778	SK-N-SH_RA	brain:	n/a
27	chr19:39813728-39813778	IMR90	lung:	fetal
28	chr19:39813728-39813778	GM12892	blood:	n/a
29	chr19:39813728-39813778	HL-60	blood:	n/a
30	chr19:39813728-39813778	HCM	heart:	n/a
31	chr19:39813728-39813778	HCPEpiC	choroid plexus:	n/a
32	chr19:39813728-39813778	BE2_C	brain:	n/a
33	chr19:39813728-39813778	HRCEpiC	kidney:	n/a
34	chr19:39813728-39813778	HMEC	breast:	n/a
35	chr19:39813728-39813778	HepG2	liver:	n/a
36	chr19:39813728-39813778	HIPEpiC	eye:	n/a
37	chr19:39813728-39813778	K562	blood:	n/a
38	chr19:39813728-39813778	A549	lung:	n/a
39	chr19:39813728-39813778	Hepatocyte	liver:	n/a
40	chr19:39813728-39813778	SK-N-MC	brain:	n/a
41	chr19:39813728-39813778	ECC-1	luminal epithelium:	n/a
42	chr19:39813728-39813778	H1-hESC	embryonic stem cell:	embryo
43	chr19:39813728-39813778	PrEC	prostate:	n/a
44	chr19:39813728-39813778	GM12878	blood:	n/a
45	chr19:39813728-39813778	HRE	kidney:	n/a
46	chr19:39813728-39813778	Hela-S3	cervix:	n/a
47	chr19:39813728-39813778	HPAEpiC	pulmonary alveolar:	n/a
48	chr19:39813728-39813778	HEK293	kidney:	embryo
49	chr19:39813728-39813778	SKMC	muscle:	n/a
50	chr19:39813728-39813778	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39811404..39814084-chr19:39901271..39903376,2	MCF-7	breast:
2	chr19:39612804..39613333-chr19:39813351..39814182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268262	TF binding region
ENSG00000268262	CpG island
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39811200-39817600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:39811200-39817800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:39811200-39819600	Weak transcription	GM12878-XiMat	blood
4	chr19:39811400-39816800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:39811400-39817600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:39811400-39825800	Weak transcription	Gastric	stomach
7	chr19:39812000-39816400	Weak transcription	Thymus	Thymus
8	chr19:39812000-39816600	Weak transcription	Primary B cells from cord blood	blood
9	chr19:39812000-39816600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:39812000-39817000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:39812000-39817000	Weak transcription	Placenta	Placenta
12	chr19:39812000-39817600	Weak transcription	Adipose Nuclei	Adipose
13	chr19:39812000-39818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:39812000-39825600	Weak transcription	Right Ventricle	heart
15	chr19:39812200-39814000	Weak transcription	Pancreas	Pancrea
16	chr19:39812200-39815800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:39812200-39816400	Weak transcription	Spleen	Spleen
18	chr19:39812200-39816400	Weak transcription	Dnd41	blood
19	chr19:39812200-39816600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:39812200-39816600	Weak transcription	Fetal Thymus	thymus
21	chr19:39812200-39817000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:39812200-39817000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:39812200-39817600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:39812200-39818200	Weak transcription	A549	lung
25	chr19:39812200-39818400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:39812200-39818600	Weak transcription	K562	blood
27	chr19:39812400-39815800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:39812400-39816400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:39812400-39817000	Weak transcription	Primary T cells from cord blood	blood
30	chr19:39812400-39817000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:39812400-39817000	Weak transcription	Lung	lung
32	chr19:39812600-39815200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:39812600-39816600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr19:39812600-39817000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39812800-39816000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:39812800-39816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:39813400-39814800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:39813600-39813800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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