Variant report

Variant	rs2233158
Chromosome Location	chr19:41282950-41282951
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	EBF1	chr19:41282826-41284228	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:41282824-41285023	GM12878	blood:	n/a	n/a
5	CEBPB	chr19:41282770-41283918	GM12878	blood:	n/a	chr19:41283651-41283659
6	REST	chr19:41282716-41283908	A549	lung:	n/a	chr19:41283403-41283412
7	FOXM1	chr19:41282787-41284249	GM12878	blood:	n/a	n/a
8	NFATC1	chr19:41282905-41283956	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:41282793-41284992	H1-hESC	embryonic stem cell:	n/a	n/a
10	RUNX3	chr19:41282646-41285107	GM12878	blood:	n/a	n/a
11	RCOR1	chr19:41282761-41284733	GM12878	blood:	n/a	n/a
12	MXI1	chr19:41282747-41285282	IMR90	lung:	n/a	n/a
13	POLR2A	chr19:41282921-41284953	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:41282937-41284819	GM12892	blood:	n/a	n/a
15	WRNIP1	chr19:41282893-41283901	GM12878	blood:	n/a	n/a
16	RUNX3	chr19:41282787-41284935	GM12878	blood:	n/a	n/a
17	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
18	MTA3	chr19:41282604-41285252	GM12878	blood:	n/a	n/a
19	RFX5	chr19:41282710-41285139	HepG2	liver:	n/a	chr19:41283514-41283523 chr19:41283511-41283525 chr19:41283651-41283660 chr19:41283510-41283525
20	MAX	chr19:41282942-41284376	GM12878	blood:	n/a	n/a
21	BCLAF1	chr19:41282905-41283981	GM12878	blood:	n/a	chr19:41283403-41283412
22	MEF2A	chr19:41282922-41283619	GM12878	blood:	n/a	n/a
23	SP1	chr19:41282788-41285148	A549	lung:	n/a	chr19:41284001-41284013 chr19:41284602-41284611 chr19:41284139-41284151 chr19:41284383-41284392 chr19:41284360-41284369 chr19:41284381-41284393 chr19:41284378-41284392 chr19:41284052-41284064 chr19:41284359-41284371 chr19:41284002-41284016 chr19:41284382-41284392 chr19:41284601-41284611 chr19:41284864-41284878 chr19:41284002-41284012 chr19:41284799-41284813 chr19:41284383-41284392 chr19:41283866-41283875 chr19:41284003-41284012 chr19:41284053-41284062 chr19:41284356-41284370 chr19:41284007-41284014 chr19:41284002-41284011 chr19:41284382-41284391 chr19:41284600-41284612 chr19:41284600-41284612 chr19:41284052-41284064 chr19:41284602-41284611 chr19:41284361-41284370 chr19:41284002-41284012 chr19:41284053-41284067 chr19:41284001-41284012 chr19:41284601-41284611 chr19:41284181-41284195 chr19:41284001-41284013 chr19:41284136-41284150 chr19:41284360-41284370 chr19:41284140-41284149 chr19:41284359-41284371 chr19:41284381-41284393 chr19:41284139-41284151 chr19:41284597-41284611 chr19:41284382-41284392 chr19:41284002-41284011 chr19:41284054-41284063 chr19:41284601-41284610
24	NFIC	chr19:41282944-41283830	GM12878	blood:	n/a	n/a
25	RFX5	chr19:41282754-41285061	H1-hESC	embryonic stem cell:	n/a	chr19:41283514-41283523 chr19:41283511-41283525 chr19:41283651-41283660 chr19:41283510-41283525
26	ATF2	chr19:41282825-41283855	GM12878	blood:	n/a	n/a
27	STAT5A	chr19:41282451-41284481	GM12878	blood:	n/a	chr19:41283681-41283704
28	SIX5	chr19:41282831-41285173	A549	lung:	n/a	chr19:41283617-41283626
29	MAX	chr19:41282804-41285428	A549	lung:	n/a	n/a
30	CHD2	chr19:41282745-41284890	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:41282878-41284707	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:41282896-41284564	GM12892	blood:	n/a	n/a
33	YY1	chr19:41282889-41284480	GM12878	blood:	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
34	RELA	chr19:41282891-41284802	GM19099	blood:	n/a	n/a
35	POLR2A	chr19:41281968-41284999	K562	blood:	n/a	n/a
36	RELA	chr19:41282820-41284400	GM19193	blood:	n/a	n/a
37	CREB1	chr19:41282839-41284730	A549	lung:	n/a	n/a
38	ATF3	chr19:41282795-41284237	A549	lung:	n/a	chr19:41284028-41284048 chr19:41283501-41283514
39	RELA	chr19:41282765-41283940	GM12878	blood:	n/a	n/a
40	ZNF143	chr19:41282919-41284729	GM12878	blood:	n/a	chr19:41284415-41284434 chr19:41284416-41284431
41	SP1	chr19:41282865-41285087	H1-hESC	embryonic stem cell:	n/a	chr19:41284001-41284013 chr19:41284602-41284611 chr19:41284139-41284151 chr19:41284383-41284392 chr19:41284360-41284369 chr19:41284381-41284393 chr19:41284378-41284392 chr19:41284052-41284064 chr19:41284359-41284371 chr19:41284002-41284016 chr19:41284382-41284392 chr19:41284601-41284611 chr19:41284864-41284878 chr19:41284002-41284012 chr19:41284799-41284813 chr19:41284383-41284392 chr19:41283866-41283875 chr19:41284003-41284012 chr19:41284053-41284062 chr19:41284356-41284370 chr19:41284007-41284014 chr19:41284002-41284011 chr19:41284382-41284391 chr19:41284600-41284612 chr19:41284600-41284612 chr19:41284052-41284064 chr19:41284602-41284611 chr19:41284361-41284370 chr19:41284002-41284012 chr19:41284053-41284067 chr19:41284001-41284012 chr19:41284601-41284611 chr19:41284181-41284195 chr19:41284001-41284013 chr19:41284136-41284150 chr19:41284360-41284370 chr19:41284140-41284149 chr19:41284359-41284371 chr19:41284381-41284393 chr19:41284139-41284151 chr19:41284597-41284611 chr19:41284382-41284392 chr19:41284002-41284011 chr19:41284054-41284063 chr19:41284601-41284610
42	SP1	chr19:41282814-41285406	A549	lung:	n/a	chr19:41284001-41284013 chr19:41284602-41284611 chr19:41284139-41284151 chr19:41284383-41284392 chr19:41284360-41284369 chr19:41284381-41284393 chr19:41284378-41284392 chr19:41284052-41284064 chr19:41284359-41284371 chr19:41284002-41284016 chr19:41284382-41284392 chr19:41284601-41284611 chr19:41284864-41284878 chr19:41284002-41284012 chr19:41284799-41284813 chr19:41284383-41284392 chr19:41283866-41283875 chr19:41284003-41284012 chr19:41284053-41284062 chr19:41284356-41284370 chr19:41284007-41284014 chr19:41284002-41284011 chr19:41284382-41284391 chr19:41284600-41284612 chr19:41284600-41284612 chr19:41284052-41284064 chr19:41284602-41284611 chr19:41284361-41284370 chr19:41284002-41284012 chr19:41284053-41284067 chr19:41284001-41284012 chr19:41284601-41284611 chr19:41284181-41284195 chr19:41284001-41284013 chr19:41284136-41284150 chr19:41284360-41284370 chr19:41284140-41284149 chr19:41284359-41284371 chr19:41284381-41284393 chr19:41284139-41284151 chr19:41284597-41284611 chr19:41284382-41284392 chr19:41284002-41284011 chr19:41284054-41284063 chr19:41284601-41284610
43	POLR2A	chr19:41282903-41285074	GM12878	blood:	n/a	n/a
44	ZNF143	chr19:41282929-41284158	K562	blood:	n/a	n/a
45	TCF3	chr19:41282888-41283384	GM12878	blood:	n/a	n/a
46	NRF1	chr19:41282924-41284733	GM12878	blood:	n/a	chr19:41284061-41284070 chr19:41284226-41284240 chr19:41284382-41284391
47	MTA3	chr19:41282636-41283920	GM12878	blood:	n/a	n/a
48	MAX	chr19:41282892-41283315	K562	blood:	n/a	n/a
49	STAT5A	chr19:41282739-41283432	GM12878	blood:	n/a	n/a
50	RFX5	chr19:41282327-41285343	IMR90	lung:	n/a	chr19:41283514-41283523 chr19:41283511-41283525 chr19:41283651-41283660 chr19:41283510-41283525

No.	Distal block	Cell Line	Cell type
1	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
2	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
3	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
4	chr19:41280553..41283413-chr19:41284684..41288209,4	MCF-7	breast:
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	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
19	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
20	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
21	chr19:41220672..41223321-chr19:41282772..41284711,3	K562	blood:
22	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
23	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

Variant related genes	Relation type
RAB4B-EGLN2	TF binding region
RAB4B	TF binding region
ENSG00000105245	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000086544	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11669731	1.00[CHB][hapmap]

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:41272200-41283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:41273000-41283000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:41273400-41283200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:41273400-41283600	Weak transcription	Lung	lung
8	chr19:41281400-41283200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:41281600-41283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:41282200-41283000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:41282200-41283000	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:41282400-41283000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr19:41282400-41283000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:41282400-41283000	Enhancers	Fetal Muscle Leg	muscle
15	chr19:41282400-41283000	Enhancers	Placenta	Placenta
16	chr19:41282400-41283000	Enhancers	Fetal Thymus	thymus
17	chr19:41282400-41283200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr19:41282400-41283200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr19:41282600-41283000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:41282600-41283000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:41282600-41283000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:41282600-41283000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:41282600-41283000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr19:41282600-41283000	Enhancers	Liver	Liver
25	chr19:41282600-41283000	Enhancers	Fetal Intestine Small	intestine
26	chr19:41282600-41283000	Enhancers	Fetal Kidney	kidney
27	chr19:41282600-41283000	Enhancers	Fetal Stomach	stomach
28	chr19:41282600-41283000	Enhancers	NHLF	lung
29	chr19:41282600-41283200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:41282600-41283200	Flanking Active TSS	GM12878-XiMat	blood
31	chr19:41282600-41283400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:41282600-41283400	Enhancers	Spleen	Spleen
33	chr19:41282600-41283400	Flanking Active TSS	Dnd41	blood
34	chr19:41282600-41283400	Flanking Active TSS	HMEC	breast
35	chr19:41282800-41283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:41282800-41283000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:41282800-41283000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:41282800-41283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:41282800-41283000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:41282800-41283000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:41282800-41283000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:41282800-41283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:41282800-41283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:41282800-41283000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:41282800-41283000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr19:41282800-41283000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:41282800-41283000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:41282800-41283000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:41282800-41283000	Enhancers	Brain Cingulate Gyrus	brain
50	chr19:41282800-41283000	Enhancers	Brain Inferior Temporal Lobe	brain

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