Variant report

Variant	rs75967736
Chromosome Location	chr19:41283607-41283608
allele	C/T
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	EP300	chr19:41282893-41284391	GM12878	blood:	n/a	chr19:41283206-41283222 chr19:41284255-41284271
2	TEAD4	chr19:41282840-41284622	K562	blood:	n/a	n/a
3	NR2F2	chr19:41283041-41285265	K562	blood:	n/a	n/a
4	CTCF	chr19:41283500-41283650	HPF	lung:	n/a	n/a
5	EBF1	chr19:41282826-41284228	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:41282824-41285023	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41283024-41284454	GM12891	blood:	n/a	n/a
8	CEBPB	chr19:41282770-41283918	GM12878	blood:	n/a	chr19:41283651-41283659
9	JUND	chr19:41283375-41283842	HepG2	liver:	n/a	chr19:41283652-41283661
10	POLR2A	chr19:41283077-41284413	GM10847	blood:	n/a	n/a
11	HEY1	chr19:41283516-41284004	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:41283144-41284860	K562	blood:	n/a	n/a
13	NFYB	chr19:41283168-41284690	Hela-S3	cervix:	n/a	chr19:41283980-41283992 chr19:41283981-41283996
14	REST	chr19:41282716-41283908	A549	lung:	n/a	chr19:41283403-41283412
15	HEY1	chr19:41283131-41284814	HepG2	liver:	n/a	chr19:41284233-41284248 chr19:41284130-41284145 chr19:41284232-41284247
16	POLR2A	chr19:41283262-41284653	PANC-1	pancreas:	n/a	n/a
17	PBX3	chr19:41283560-41284991	A549	lung:	n/a	chr19:41283827-41283836 chr19:41283651-41283660
18	ZC3H11A	chr19:41283054-41283950	K562	blood:	n/a	n/a
19	FOXM1	chr19:41282787-41284249	GM12878	blood:	n/a	n/a
20	NFATC1	chr19:41282905-41283956	GM12878	blood:	n/a	n/a
21	ARID3A	chr19:41282972-41283984	HepG2	liver:	n/a	n/a
22	MEF2A	chr19:41282958-41283883	GM12878	blood:	n/a	chr19:41283669-41283686
23	YY1	chr19:41283524-41284990	A549	lung:	n/a	chr19:41284243-41284265 chr19:41284226-41284240 chr19:41284241-41284258 chr19:41284237-41284246 chr19:41284242-41284254 chr19:41284382-41284391 chr19:41284235-41284246 chr19:41284143-41284152
24	EP300	chr19:41283001-41283937	GM12878	blood:	n/a	chr19:41283206-41283222
25	MAFK	chr19:41283583-41284016	K562	blood:	n/a	n/a
26	CHD2	chr19:41283453-41284339	K562	blood:	n/a	n/a
27	MAZ	chr19:41283091-41284792	K562	blood:	n/a	n/a
28	CREB1	chr19:41283296-41284366	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr19:41282793-41284992	H1-hESC	embryonic stem cell:	n/a	n/a
30	RUNX3	chr19:41282646-41285107	GM12878	blood:	n/a	n/a
31	STAT1	chr19:41283046-41284778	GM12878	blood:	n/a	chr19:41283681-41283704
32	CEBPZ	chr19:41283487-41284162	HepG2	liver:	n/a	n/a
33	RCOR1	chr19:41282761-41284733	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:41283062-41284796	K562	blood:	n/a	n/a
35	MXI1	chr19:41282747-41285282	IMR90	lung:	n/a	n/a
36	POLR2A	chr19:41282921-41284953	GM12892	blood:	n/a	n/a
37	ZMIZ1	chr19:41283520-41284619	K562	blood:	n/a	n/a
38	POLR2A	chr19:41282937-41284819	GM12892	blood:	n/a	n/a
39	WRNIP1	chr19:41282893-41283901	GM12878	blood:	n/a	n/a
40	MAX	chr19:41283054-41284669	NB4	blood:	n/a	n/a
41	POLR2A	chr19:41282976-41283628	HL-60	blood:	n/a	n/a
42	RUNX3	chr19:41282787-41284935	GM12878	blood:	n/a	n/a
43	POU2F2	chr19:41282807-41284930	GM12878	blood:	n/a	chr19:41283177-41283187 chr19:41283177-41283187 chr19:41283849-41283861 chr19:41283179-41283186 chr19:41283176-41283188 chr19:41283178-41283187 chr19:41283176-41283190 chr19:41283849-41283863 chr19:41283179-41283187 chr19:41283178-41283188 chr19:41283178-41283189 chr19:41283175-41283190 chr19:41283178-41283189
44	MYC	chr19:41283560-41284418	K562	blood:	n/a	n/a
45	NFYB	chr19:41283233-41284542	K562	blood:	n/a	chr19:41283980-41283992 chr19:41283981-41283996
46	BHLHE40	chr19:41283159-41285010	HepG2	liver:	n/a	n/a
47	MTA3	chr19:41282604-41285252	GM12878	blood:	n/a	n/a
48	MAFK	chr19:41283314-41285140	HepG2	liver:	n/a	n/a
49	TBL1XR1	chr19:41283243-41284330	K562	blood:	n/a	n/a
50	IRF1	chr19:41283326-41284782	K562	blood:	n/a	chr19:41284581-41284595 chr19:41283567-41283580 chr19:41284139-41284153 chr19:41283983-41283992 chr19:41284359-41284373 chr19:41283999-41284013 chr19:41284381-41284395 chr19:41284050-41284064 chr19:41284600-41284614

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41283578-41283628	SK-N-SH_RA	brain:	n/a
2	chr19:41283578-41283628	PFSK-1	brain:	n/a
3	chr19:41283578-41283628	MCF-7	breast:	n/a
4	chr19:41283578-41283628	ProgFib	skin:	n/a
5	chr19:41283578-41283628	HRPEpiC	eye:	n/a
6	chr19:41283578-41283628	CMK	blood:	n/a
7	chr19:41283578-41283628	HepG2	liver:	n/a
8	chr19:41283578-41283628	HIPEpiC	eye:	n/a
9	chr19:41283578-41283628	RPTEC	kidney:	n/a
10	chr19:41283578-41283628	HAEpiC	amniotic membrane:	n/a
11	chr19:41283578-41283628	Hela-S3	cervix:	n/a
12	chr19:41283578-41283628	NT2-D1	testis:	n/a
13	chr19:41283578-41283628	Hepatocyte	liver:	n/a
14	chr19:41283578-41283628	GM19239	blood:	n/a
15	chr19:41283578-41283628	GM06990	blood:	n/a
16	chr19:41283578-41283628	HMEC	breast:	n/a
17	chr19:41283578-41283628	U87	brain:	n/a
18	chr19:41283578-41283628	T-47D	breast:	n/a
19	chr19:41283578-41283628	ECC-1	luminal epithelium:	n/a
20	chr19:41283578-41283628	GM12892	blood:	n/a
21	chr19:41283578-41283628	HEK293	kidney:	embryo
22	chr19:41283578-41283628	HEEpiC	esophagus:	n/a
23	chr19:41283578-41283628	BE2_C	brain:	n/a
24	chr19:41283578-41283628	GM12891	blood:	n/a
25	chr19:41283578-41283628	PrEC	prostate:	n/a
26	chr19:41283578-41283628	HCM	heart:	n/a
27	chr19:41283578-41283628	K562	blood:	n/a
28	chr19:41283578-41283628	SKMC	muscle:	n/a
29	chr19:41283578-41283628	SK-N-SH	brain:	n/a
30	chr19:41283578-41283628	LNCaP	prostate:	n/a
31	chr19:41283578-41283628	Jurkat	blood:	n/a
32	chr19:41283578-41283628	ovcar-3	ovarian:	n/a
33	chr19:41283578-41283628	HRE	kidney:	n/a
34	chr19:41283578-41283628	A549	lung:	n/a
35	chr19:41283578-41283628	Caco-2	colon:	n/a
36	chr19:41283578-41283628	SK-N-MC	brain:	n/a
37	chr19:41283578-41283628	HCPEpiC	choroid plexus:	n/a
38	chr19:41283578-41283628	BJ	skin:	n/a
39	chr19:41283578-41283628	NHBE	bronchial:	n/a
40	chr19:41283578-41283628	NH-A	brain:	n/a
41	chr19:41283578-41283628	H1-hESC	embryonic stem cell:	embryo
42	chr19:41283578-41283628	AG10803	skin:	n/a
43	chr19:41283578-41283628	PANC-1	pancreas:	n/a
44	chr19:41283578-41283628	AG09319	gingival:	n/a
45	chr19:41283578-41283628	SAEC	small airway:	n/a
46	chr19:41283578-41283628	GM12878	blood:	n/a
47	chr19:41283578-41283628	HNPCEpiC	eye:	n/a
48	chr19:41283578-41283628	MCF10A-Er-Src	breast:	n/a
49	chr19:41283578-41283628	AoSMC	blood vessel:	n/a
50	chr19:41283578-41283628	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41282962..41284842-chr19:41308232..41310693,2	MCF-7	breast:
2	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
3	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
4	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
5	chr19:41260895..41264688-chr19:41281653..41284501,3	MCF-7	breast:
6	chr19:41219466..41223288-chr19:41281896..41285456,5	MCF-7	breast:
7	chr19:41220807..41223667-chr19:41282098..41285361,4	MCF-7	breast:
8	chr19:41276921..41279823-chr19:41282678..41284570,2	MCF-7	breast:
9	chr19:41282306..41285368-chr19:41311943..41315414,5	MCF-7	breast:
10	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
11	chr19:41221538..41223321-chr19:41282786..41284711,2	K562	blood:
12	chr14:102505039..102506720-chr19:41282932..41285736,2	MCF-7	breast:
13	chr19:41282175..41285758-chr19:41311471..41315456,8	K562	blood:
14	chr19:41246510..41248162-chr19:41281990..41283890,2	K562	blood:
15	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
16	chr19:41282692..41284743-chr19:41312820..41314498,2	MCF-7	breast:
17	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
18	chr19:41283422..41285801-chr19:41305183..41308009,2	MCF-7	breast:
19	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
20	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
21	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
22	chr19:41220672..41223321-chr19:41282772..41284711,3	K562	blood:
23	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
24	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

Variant related genes	Relation type
RAB4B-EGLN2	TF binding region
RAB4B	TF binding region
RAB4B-EGLN2	CpG island
RAB4B	CpG island
ENSG00000197102	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv13500	chr19:41283063-41285263	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	11 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	chr19:41282800-41285000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41282800-41285200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:41282800-41285400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41283000-41283800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:41283000-41284000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr19:41283000-41284000	Flanking Active TSS	Liver	Liver
7	chr19:41283000-41284000	Flanking Active TSS	Fetal Thymus	thymus
8	chr19:41283000-41284000	Flanking Active TSS	Osteobl	bone
9	chr19:41283000-41284800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:41283000-41285000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:41283000-41285200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr19:41283000-41285200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:41283000-41285200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:41283000-41285200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:41283000-41285400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:41283000-41285400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:41283000-41285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:41283000-41285400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr19:41283200-41284200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41283200-41284400	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:41283200-41284600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:41283200-41284600	Active TSS	Primary B cells from cord blood	blood
23	chr19:41283200-41284600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:41283200-41284600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr19:41283200-41284600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:41283200-41284600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:41283200-41284600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:41283200-41284600	Active TSS	Duodenum Mucosa	Duodenum
29	chr19:41283200-41284600	Active TSS	Esophagus	oesophagus
30	chr19:41283200-41284600	Active TSS	Fetal Intestine Small	intestine
31	chr19:41283200-41284600	Active TSS	Gastric	stomach
32	chr19:41283200-41284600	Active TSS	Pancreas	Pancrea
33	chr19:41283200-41284600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:41283200-41284600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr19:41283200-41284600	Active TSS	Rectal Smooth Muscle	rectum
36	chr19:41283200-41284600	Active TSS	Right Ventricle	heart
37	chr19:41283200-41284600	Active TSS	Small Intestine	intestine
38	chr19:41283200-41284600	Active TSS	Stomach Mucosa	stomach
39	chr19:41283200-41284800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:41283200-41284800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:41283200-41284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:41283200-41284800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:41283200-41284800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:41283200-41284800	Active TSS	Brain Angular Gyrus	brain
45	chr19:41283200-41284800	Active TSS	Brain Hippocampus Middle	brain
46	chr19:41283200-41284800	Active TSS	Brain Substantia Nigra	brain
47	chr19:41283200-41284800	Active TSS	Colonic Mucosa	Colon
48	chr19:41283200-41284800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr19:41283200-41284800	Active TSS	Fetal Kidney	kidney
50	chr19:41283200-41284800	Active TSS	Fetal Lung	lung

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