Variant report

Variant	rs2231936
Chromosome Location	chr19:41946002-41946003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr19:41945415-41946105	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:41945262-41946029	HCT-116	colon:	n/a	n/a
3	MYC	chr19:41945333-41946115	K562	blood:	n/a	n/a
4	POLR2A	chr19:41945144-41946090	PFSK-1	brain:	n/a	n/a
5	TBP	chr19:41945231-41946104	GM12878	blood:	n/a	n/a
6	NR2F2	chr19:41945547-41946070	K562	blood:	n/a	n/a
7	CTCF	chr19:41945880-41946030	GM12870	blood:	n/a	n/a
8	RAD21	chr19:41945647-41946224	A549	lung:	n/a	n/a
9	UBTF	chr19:41945578-41946075	K562	blood:	n/a	n/a
10	CEBPB	chr19:41945476-41946081	MCF-7	breast:	n/a	n/a
11	SP1	chr19:41945266-41946129	GM12878	blood:	n/a	chr19:41945881-41945891 chr19:41945487-41945508 chr19:41945531-41945552
12	POLR2A	chr19:41945393-41946032	MCF-7	breast:	n/a	n/a
13	MYBL2	chr19:41945459-41946163	HepG2	liver:	n/a	n/a
14	USF1	chr19:41945679-41946040	K562	blood:	n/a	n/a
15	ELF1	chr19:41945346-41946158	MCF-7	breast:	n/a	chr19:41945820-41945831
16	PML	chr19:41945397-41946067	MCF-7	breast:	n/a	n/a
17	RFX5	chr19:41945399-41946003	HepG2	liver:	n/a	chr19:41945497-41945506 chr19:41945874-41945889
18	E2F4	chr19:41945461-41946073	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr19:41945804-41946025	ECC-1	luminal epithelium:	n/a	chr19:41945823-41945836
20	RCOR1	chr19:41945283-41946144	K562	blood:	n/a	n/a
21	RAD21	chr19:41945740-41946195	ECC-1	luminal epithelium:	n/a	n/a
22	RUNX3	chr19:41945418-41946132	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:41945243-41946009	MCF-7	breast:	n/a	n/a
24	TCF12	chr19:41945244-41946223	A549	lung:	n/a	n/a
25	MAX	chr19:41945420-41946137	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr19:41945242-41946106	A549	lung:	n/a	n/a
27	CTCF	chr19:41945900-41946050	MCF-7	breast:	n/a	n/a
28	YY1	chr19:41945417-41946044	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:41945230-41946031	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:41945358-41946173	HL-60	blood:	n/a	n/a
31	CTCF	chr19:41945778-41946148	IMR90	lung:	n/a	chr19:41945823-41945836
32	CTCF	chr19:41945671-41946128	Spleen_OC	spleen:	n/a	chr19:41945823-41945836
33	FOS	chr19:41945716-41946125	MCF10A-Er-Src	breast:	n/a	n/a
34	MAX	chr19:41945184-41946266	A549	lung:	n/a	n/a
35	CTCF	chr19:41945785-41946094	ECC-1	luminal epithelium:	n/a	chr19:41945823-41945836
36	MXI1	chr19:41945330-41946093	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr19:41945171-41946226	A549	lung:	n/a	n/a
38	HEY1	chr19:41945184-41946069	HepG2	liver:	n/a	n/a
39	RAD21	chr19:41945731-41946034	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr19:41945083-41946235	A549	lung:	n/a	chr19:41945481-41945488 chr19:41945119-41945133
41	MAZ	chr19:41945354-41946026	Hela-S3	cervix:	n/a	n/a
42	NR2F2	chr19:41945223-41946016	K562	blood:	n/a	n/a
43	CTCF	chr19:41945920-41946070	RPTEC	kidney:	n/a	n/a
44	MXI1	chr19:41945510-41946145	GM12878	blood:	n/a	n/a
45	ATF3	chr19:41945143-41946236	A549	lung:	n/a	n/a
46	YY1	chr19:41945375-41946123	K562	blood:	n/a	n/a
47	CTCF	chr19:41945844-41946091	MCF-7	breast:	n/a	n/a
48	SMC3	chr19:41945776-41946175	GM12878	blood:	n/a	n/a
49	CTCF	chr19:41945880-41946030	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr19:41945860-41946010	HVMF	connective:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41945961-41946011	HCT-116	colon:	n/a
2	chr19:41945984-41946034	HAEpiC	amniotic membrane:	n/a
3	chr19:41945984-41946034	IMR90	lung:	fetal
4	chr19:41945984-41946034	GM12878	blood:	n/a
5	chr19:41945984-41946034	GM19239	blood:	n/a
6	chr19:41945984-41946034	HRCEpiC	kidney:	n/a
7	chr19:41945984-41946034	HEK293	kidney:	embryo
8	chr19:41945984-41946034	HCT-116	colon:	n/a
9	chr19:41945961-41946011	Jurkat	blood:	n/a
10	chr19:41945984-41946034	SK-N-SH_RA	brain:	n/a
11	chr19:41945984-41946034	HepG2	liver:	n/a
12	chr19:41945961-41946011	PANC-1	pancreas:	n/a
13	chr19:41945961-41946011	HEEpiC	esophagus:	n/a
14	chr19:41945961-41946011	AG04450	lung:	fetal
15	chr19:41945961-41946011	Hepatocyte	liver:	n/a
16	chr19:41945961-41946011	HCF	heart:	n/a
17	chr19:41945984-41946034	HCF	heart:	n/a
18	chr19:41945961-41946011	SKMC	muscle:	n/a
19	chr19:41945984-41946034	T-47D	breast:	n/a
20	chr19:41945961-41946011	A549	lung:	n/a
21	chr19:41945961-41946011	HRPEpiC	eye:	n/a
22	chr19:41945984-41946034	Hepatocyte	liver:	n/a
23	chr19:41945961-41946011	AG04449	skin:	fetal
24	chr19:41945984-41946034	HL-60	blood:	n/a
25	chr19:41945984-41946034	HEEpiC	esophagus:	n/a
26	chr19:41945961-41946011	BJ	skin:	n/a
27	chr19:41945961-41946011	H1-hESC	embryonic stem cell:	embryo
28	chr19:41945984-41946034	Hela-S3	cervix:	n/a
29	chr19:41945961-41946011	T-47D	breast:	n/a
30	chr19:41945961-41946011	MCF10A-Er-Src	breast:	n/a
31	chr19:41945961-41946011	GM12878	blood:	n/a
32	chr19:41945984-41946034	RPTEC	kidney:	n/a
33	chr19:41945961-41946011	NHDF-neo	bronchial:	n/a
34	chr19:41945961-41946011	MCF-7	breast:	n/a
35	chr19:41945984-41946034	Jurkat	blood:	n/a
36	chr19:41945961-41946011	AG09319	gingival:	n/a
37	chr19:41945961-41946011	RPTEC	kidney:	n/a
38	chr19:41945961-41946011	ProgFib	skin:	n/a
39	chr19:41945961-41946011	BE2_C	brain:	n/a
40	chr19:41945961-41946011	PFSK-1	brain:	n/a
41	chr19:41945984-41946034	K562	blood:	n/a
42	chr19:41945961-41946011	CMK	blood:	n/a
43	chr19:41945984-41946034	NH-A	brain:	n/a
44	chr19:41945984-41946034	BE2_C	brain:	n/a
45	chr19:41945984-41946034	NB4	blood:	n/a
46	chr19:41945961-41946011	PrEC	prostate:	n/a
47	chr19:41945961-41946011	IMR90	lung:	fetal
48	chr19:41945961-41946011	HEK293	kidney:	embryo
49	chr19:41945961-41946011	ovcar-3	ovarian:	n/a
50	chr19:41945984-41946034	AG10803	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41944180..41946970-chr7:80547778..80549990,2	MCF-7	breast:
2	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
3	chr19:41944238..41947062-chr19:41948910..41951983,5	K562	blood:
4	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:
5	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:
6	chr19:41868336..41870018-chr19:41944233..41946275,2	K562	blood:
7	chr19:41903473..41906087-chr19:41945278..41947256,2	MCF-7	breast:
8	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
9	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
10	chr19:41940773..41942496-chr19:41944318..41947193,2	MCF-7	breast:
11	chr19:41901938..41905441-chr19:41944047..41947443,5	K562	blood:
12	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:
13	chr19:41944614..41946975-chr19:41948804..41950642,2	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf69	TF binding region
ATP5SL	TF binding region
ATP5SL	CpG island
C19orf69	CpG island
ENSG00000268987	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000075223	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000267107	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000204978	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11466321	1.00[ASN][1000 genomes]
rs12327735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327737	1.00[ASN][1000 genomes]
rs12327776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800471	1.00[ASN][1000 genomes]
rs36035938	1.00[ASN][1000 genomes]
rs55826925	1.00[ASN][1000 genomes]
rs56058717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58479032	1.00[ASN][1000 genomes]
rs58921598	1.00[ASN][1000 genomes]
rs59204307	1.00[ASN][1000 genomes]
rs59233264	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59777247	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73047219	1.00[ASN][1000 genomes]
rs73931466	1.00[ASN][1000 genomes]
rs73931468	1.00[ASN][1000 genomes]
rs73931470	1.00[ASN][1000 genomes]
rs73931471	1.00[ASN][1000 genomes]
rs73931472	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931473	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931483	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102501	1.00[ASN][1000 genomes]
rs8106870	1.00[ASN][1000 genomes]
rs8106934	1.00[ASN][1000 genomes]
rs8106999	1.00[ASN][1000 genomes]
rs8108664	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9973242	1.00[ASN][1000 genomes]

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41944800-41946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41944800-41946200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:41944800-41946200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:41944800-41946200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:41944800-41946200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr19:41944800-41946200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:41944800-41946200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:41944800-41946200	Active TSS	Fetal Brain Female	brain
9	chr19:41944800-41946200	Active TSS	Psoas Muscle	Psoas
10	chr19:41944800-41946200	Active TSS	GM12878-XiMat	blood
11	chr19:41944800-41946400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:41944800-41946400	Active TSS	Stomach Smooth Muscle	stomach
13	chr19:41945000-41946200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:41945000-41946200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:41945000-41946200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:41945000-41946200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:41945000-41946200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:41945000-41946200	Active TSS	Brain Germinal Matrix	brain
19	chr19:41945000-41946200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:41945000-41946200	Active TSS	HSMM	muscle
21	chr19:41945000-41946200	Active TSS	HSMMtube	muscle
22	chr19:41945000-41946400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr19:41945200-41946200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:41945200-41946200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr19:41945200-41946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:41945200-41946200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:41945200-41946200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:41945200-41946200	Active TSS	Brain Cingulate Gyrus	brain
29	chr19:41945200-41946200	Active TSS	A549	lung
30	chr19:41945200-41946400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:41945200-41946400	Active TSS	Brain Angular Gyrus	brain
32	chr19:41945200-41946400	Active TSS	Brain Hippocampus Middle	brain
33	chr19:41945200-41946800	Active TSS	Colon Smooth Muscle	Colon
34	chr19:41945400-41946200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:41945400-41946200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:41945400-41946200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:41945400-41946200	Active TSS	Brain Anterior Caudate	brain
38	chr19:41945400-41946200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:41945400-41946200	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:41945400-41946200	Active TSS	Osteobl	bone
41	chr19:41945400-41946400	Active TSS	Hela-S3	cervix
42	chr19:41945600-41946200	Active TSS	Primary T cells from cord blood	blood
43	chr19:41945600-41946200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr19:41945600-41946200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr19:41945600-41946200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:41945800-41946200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:41945800-41946200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:41945800-41946200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:41945800-41946200	Enhancers	Fetal Brain Male	brain
50	chr19:41945800-41946200	Enhancers	Fetal Stomach	stomach

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