Variant report

Variant	rs2927460
Chromosome Location	chr19:45246039-45246040
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	RCOR1	chr19:45245946-45246067	K562	blood:	n/a	n/a
2	FOSL2	chr19:45245755-45246141	A549	lung:	n/a	n/a
3	BCL3	chr19:45245726-45246742	A549	lung:	n/a	n/a
4	ESR1	chr19:45245993-45246385	T-47D	breast:	n/a	chr19:45246196-45246211
5	CREB1	chr19:45245055-45246180	A549	lung:	n/a	n/a
6	EP300	chr19:45244284-45246491	A549	lung:	n/a	chr19:45245432-45245448 chr19:45245151-45245167
7	JUND	chr19:45244533-45246222	A549	lung:	n/a	chr19:45245910-45245921 chr19:45245234-45245245 chr19:45245231-45245242
8	JUND	chr19:45245761-45246127	Hela-S3	cervix:	n/a	chr19:45245910-45245921
9	FOS	chr19:45245802-45246131	HUVEC	blood vessel:	n/a	chr19:45245910-45245921
10	JUND	chr19:45245774-45246050	HepG2	liver:	n/a	chr19:45245910-45245921
11	CEBPB	chr19:45244604-45246120	Hela-S3	cervix:	n/a	chr19:45245219-45245230
12	POLR2A	chr19:45245876-45246123	A549	lung:	n/a	n/a
13	POLR2A	chr19:45245106-45246221	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr19:45244622-45246288	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:45245168-45246269	Hela-S3	cervix:	n/a	n/a
16	MAX	chr19:45245786-45246580	A549	lung:	n/a	n/a
17	TCF12	chr19:45245761-45246222	ECC-1	luminal epithelium:	n/a	n/a
18	SP1	chr19:45244513-45246357	HCT-116	colon:	n/a	chr19:45245170-45245182 chr19:45245418-45245428 chr19:45245171-45245181 chr19:45245170-45245182 chr19:45245167-45245181 chr19:45245171-45245180 chr19:45245419-45245428 chr19:45245418-45245428 chr19:45245062-45245076 chr19:45245418-45245427 chr19:45245414-45245428
19	SIX5	chr19:45244328-45246604	A549	lung:	n/a	n/a
20	TCF12	chr19:45245793-45246348	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr19:45245005-45246643	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr19:45245849-45246119	Hela-S3	cervix:	n/a	n/a
23	JUND	chr19:45245768-45246059	K562	blood:	n/a	chr19:45245910-45245921
24	RCOR1	chr19:45244526-45246354	Hela-S3	cervix:	n/a	n/a
25	GATA3	chr19:45244356-45246475	A549	lung:	n/a	n/a
26	JUN	chr19:45244552-45246263	K562	blood:	n/a	chr19:45245234-45245245
27	POLR2A	chr19:45245754-45246110	HCT-116	colon:	n/a	n/a
28	POLR2A	chr19:45245950-45246155	MCF10A-Er-Src	breast:	n/a	n/a
29	JUND	chr19:45244579-45246226	A549	lung:	n/a	chr19:45245910-45245921 chr19:45245234-45245245 chr19:45245231-45245242
30	TFAP2C	chr19:45244599-45246130	Hela-S3	cervix:	n/a	chr19:45245430-45245445
31	NR2F2	chr19:45244650-45246103	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:45245171-45246447	Hela-S3	cervix:	n/a	n/a
33	FOS	chr19:45245763-45246056	MCF10A-Er-Src	breast:	n/a	chr19:45245910-45245921
34	FOS	chr19:45245735-45246055	MCF10A-Er-Src	breast:	n/a	chr19:45245910-45245921
35	FOSL2	chr19:45244328-45246656	A549	lung:	n/a	chr19:45245234-45245245
36	NFIC	chr19:45244825-45246168	SK-N-SH	brain:	n/a	n/a
37	FOS	chr19:45244528-45246104	MCF10A-Er-Src	breast:	n/a	chr19:45245910-45245921 chr19:45245234-45245245 chr19:45245231-45245242
38	BCL3	chr19:45244380-45246609	A549	lung:	n/a	chr19:45245156-45245169 chr19:45245160-45245169 chr19:45245163-45245172
39	EP300	chr19:45244379-45246645	A549	lung:	n/a	chr19:45245432-45245448 chr19:45245151-45245167
40	SP1	chr19:45244370-45246432	A549	lung:	n/a	chr19:45245170-45245182 chr19:45245418-45245428 chr19:45245171-45245181 chr19:45245170-45245182 chr19:45245167-45245181 chr19:45245171-45245180 chr19:45245419-45245428 chr19:45245418-45245428 chr19:45245062-45245076 chr19:45245418-45245427 chr19:45245414-45245428
41	REST	chr19:45245743-45246546	A549	lung:	n/a	chr19:45246463-45246481
42	EP300	chr19:45245741-45246343	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr19:45245145-45246284	U87	brain:	n/a	n/a
44	REST	chr19:45245889-45246253	A549	lung:	n/a	n/a
45	SP1	chr19:45244338-45246461	A549	lung:	n/a	chr19:45245170-45245182 chr19:45245418-45245428 chr19:45245171-45245181 chr19:45245170-45245182 chr19:45245167-45245181 chr19:45245171-45245180 chr19:45245419-45245428 chr19:45245418-45245428 chr19:45245062-45245076 chr19:45245418-45245427 chr19:45245414-45245428
46	TCF7L2	chr19:45245200-45246262	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr19:45243135-45247255	A549	lung:	n/a	chr19:45245151-45245158
48	POLR2A	chr19:45245864-45246084	A549	lung:	n/a	n/a
49	SIN3AK20	chr19:45245814-45246316	A549	lung:	n/a	n/a
50	POLR2A	chr19:45245139-45246284	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
2	chr19:45243778..45246172-chr19:45250580..45252564,2	K562	blood:
3	chr19:45226230..45230081-chr19:45243505..45246570,6	MCF-7	breast:
4	chr19:45244778..45247481-chr19:45616190..45618062,2	MCF-7	breast:
5	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000252200	Chromatin interaction
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2927461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965129	1.00[AMR][1000 genomes]
rs2965172	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:45240800-45247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:45242000-45248200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr19:45242800-45250200	Enhancers	Liver	Liver
6	chr19:45243400-45246800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:45243400-45246800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr19:45243400-45247400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:45243400-45247400	Enhancers	Stomach Mucosa	stomach
10	chr19:45243400-45248400	Enhancers	Colonic Mucosa	Colon
11	chr19:45243400-45250000	Enhancers	Fetal Intestine Small	intestine
12	chr19:45243400-45250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:45243400-45250400	Enhancers	Fetal Intestine Large	intestine
14	chr19:45243600-45246400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:45243600-45246600	Enhancers	Brain Hippocampus Middle	brain
16	chr19:45243600-45246600	Enhancers	Fetal Muscle Leg	muscle
17	chr19:45243600-45246800	Enhancers	Fetal Thymus	thymus
18	chr19:45243600-45246800	Enhancers	Right Atrium	heart
19	chr19:45243600-45247000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:45243600-45248200	Enhancers	Adipose Nuclei	Adipose
21	chr19:45243600-45248400	Enhancers	Duodenum Mucosa	Duodenum
22	chr19:45243600-45249200	Enhancers	Pancreas	Pancrea
23	chr19:45243600-45250200	Enhancers	Fetal Muscle Trunk	muscle
24	chr19:45243800-45246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:45243800-45252000	Weak transcription	Gastric	stomach
26	chr19:45244000-45246400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr19:45244000-45249000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr19:45244000-45249800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:45244200-45246600	Enhancers	HMEC	breast
30	chr19:45244200-45247200	Enhancers	Fetal Stomach	stomach
31	chr19:45244200-45250200	Enhancers	Primary B cells from cord blood	blood
32	chr19:45244400-45246400	Enhancers	NHEK	skin
33	chr19:45244600-45246200	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:45244600-45246200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr19:45244600-45246400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:45244600-45246400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:45244600-45246400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:45244600-45246400	Enhancers	NH-A	brain
39	chr19:45244600-45246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:45244600-45246600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:45244600-45246600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr19:45244600-45246600	Enhancers	NHLF	lung
43	chr19:45244600-45246800	Enhancers	HUVEC	blood vessel
44	chr19:45244600-45247200	Enhancers	NHDF-Ad	bronchial
45	chr19:45244600-45247600	Enhancers	Small Intestine	intestine
46	chr19:45244600-45249200	Enhancers	Left Ventricle	heart
47	chr19:45244600-45249600	Enhancers	Placenta	Placenta
48	chr19:45244800-45246200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:45244800-45246200	Enhancers	Brain Cingulate Gyrus	brain
50	chr19:45244800-45246200	Enhancers	Brain Inferior Temporal Lobe	brain

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