Variant report

Variant	rs2432039
Chromosome Location	chr19:36706732-36706733
allele	C/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	TBL1XR1	chr19:36704895-36706786	K562	blood:	n/a	n/a
2	REST	chr19:36704763-36707048	H1-neurons	neurons:	n/a	chr19:36705953-36705966 chr19:36705449-36705459 chr19:36705169-36705178
3	POLR2A	chr19:36704892-36707104	PFSK-1	brain:	n/a	n/a
4	MXI1	chr19:36704643-36707239	SK-N-SH	brain:	n/a	chr19:36706077-36706086
5	POLR2A	chr19:36705109-36706954	Hela-S3	cervix:	n/a	n/a
6	EP300	chr19:36705207-36707009	GM12878	blood:	n/a	chr19:36706180-36706193
7	POLR2A	chr19:36706592-36707039	K562	blood:	n/a	n/a
8	TBL1XR1	chr19:36706448-36707107	K562	blood:	n/a	n/a
9	MYC	chr19:36705186-36706870	K562	blood:	n/a	n/a
10	POLR2A	chr19:36704904-36707081	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr19:36705012-36708000	PANC-1	pancreas:	n/a	n/a
12	MXI1	chr19:36704688-36707015	IMR90	lung:	n/a	chr19:36706077-36706086
13	POLR2A	chr19:36705747-36707001	GM12891	blood:	n/a	n/a
14	EP300	chr19:36705224-36706968	K562	blood:	n/a	chr19:36706180-36706193
15	SP1	chr19:36704766-36707089	A549	lung:	n/a	chr19:36705832-36705844 chr19:36705496-36705509 chr19:36705494-36705506 chr19:36706940-36706950 chr19:36705496-36705505 chr19:36706940-36706949 chr19:36705495-36705504 chr19:36706940-36706950 chr19:36706939-36706951 chr19:36706941-36706950 chr19:36705829-36705843 chr19:36705833-36705842 chr19:36706940-36706949 chr19:36705494-36705506 chr19:36706939-36706951
16	STAT5A	chr19:36706207-36706979	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36704947-36707096	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIX5	chr19:36704674-36706934	A549	lung:	n/a	chr19:36706350-36706359 chr19:36705618-36705627 chr19:36705620-36705629 chr19:36705875-36705884 chr19:36705877-36705886
19	CHD1	chr19:36704898-36706923	GM12878	blood:	n/a	chr19:36705832-36705842
20	POLR2A	chr19:36705217-36707065	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr19:36704754-36707001	HepG2	liver:	n/a	n/a
22	GATA1	chr19:36705208-36706838	PBDE	blood:	n/a	chr19:36705665-36705672 chr19:36705665-36705672 chr19:36705665-36705672 chr19:36705664-36705674
23	POLR2A	chr19:36704857-36706877	GM12891	blood:	n/a	n/a
24	KAP1	chr19:36704911-36707082	U2OS	brain:	n/a	n/a
25	HEY1	chr19:36706587-36707004	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:36705901-36707073	K562	blood:	n/a	n/a
27	ETS1	chr19:36704722-36707071	A549	lung:	n/a	chr19:36705617-36705630 chr19:36706941-36706952 chr19:36706387-36706400 chr19:36705618-36705631 chr19:36705875-36705888 chr19:36705831-36705842
28	REST	chr19:36704653-36707128	A549	lung:	n/a	chr19:36705953-36705966 chr19:36705449-36705459 chr19:36705169-36705178
29	POLR2A	chr19:36704949-36707020	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:36706714-36706978	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr19:36706617-36707041	HUVEC	blood vessel:	n/a	n/a
32	MYC	chr19:36704793-36707082	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr19:36705749-36706810	HUVEC	blood vessel:	n/a	n/a
34	WRNIP1	chr19:36704799-36706901	GM12878	blood:	n/a	n/a
35	MYC	chr19:36704495-36707047	A549	lung:	n/a	n/a
36	POLR2A	chr19:36704595-36707076	GM12892	blood:	n/a	n/a
37	POLR2A	chr19:36706534-36706954	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr19:36705068-36706986	H1-hESC	embryonic stem cell:	n/a	n/a
39	IRF1	chr19:36705227-36707081	K562	blood:	n/a	chr19:36705492-36705506 chr19:36706500-36706516 chr19:36706304-36706318
40	BCL3	chr19:36704628-36707018	A549	lung:	n/a	chr19:36705488-36705501
41	POLR2A	chr19:36704866-36706977	K562	blood:	n/a	n/a
42	HEY1	chr19:36706551-36706989	K562	blood:	n/a	n/a
43	CHD1	chr19:36704580-36707460	IMR90	lung:	n/a	chr19:36706939-36706949 chr19:36705832-36705842
44	POLR2A	chr19:36705419-36706924	HepG2	liver:	n/a	n/a
45	POLR2A	chr19:36705110-36706944	GM12891	blood:	n/a	n/a
46	EP300	chr19:36704839-36706805	A549	lung:	n/a	chr19:36706180-36706193
47	POLR2A	chr19:36705007-36706930	H1-hESC	embryonic stem cell:	n/a	n/a
48	ARID3A	chr19:36705565-36706787	HepG2	liver:	n/a	chr19:36706566-36706582 chr19:36706565-36706581
49	SIN3A	chr19:36704909-36707004	H1-hESC	embryonic stem cell:	n/a	chr19:36705191-36705202 chr19:36705941-36705954
50	RELA	chr19:36704900-36706859	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36679317..36682281-chr19:36704526..36707611,3	MCF-7	breast:
2	chr19:36705785..36707917-chr19:36719166..36721745,2	K562	blood:
3	chr19:36704317..36708058-chr19:36719298..36721271,3	MCF-7	breast:
4	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
5	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
6	chr19:36706137..36706826-chr20:30539335..30539964,2	Hela-S3	cervix:
7	chr1:151512285..151512958-chr19:36706143..36706947,2	Hela-S3	cervix:
8	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
9	chr19:36705027..36707515-chr19:37176765..37178367,2	MCF-7	breast:
10	chr19:36635772..36637555-chr19:36705789..36707718,2	K562	blood:

Variant related genes	Relation type
ZNF565	TF binding region
ENSG00000264276	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000225975	Chromatin interaction
ENSG00000088356	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10409091	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10411031	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10416179	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10416237	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10417892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10418510	0.86[CHB][hapmap]
rs10420071	0.81[CHB][hapmap]
rs12973781	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2070132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271844	0.81[CHB][hapmap]
rs2287897	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2287898	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2310856	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2385803	0.86[CHB][hapmap]
rs2385804	0.91[CHB][hapmap]
rs2432042	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2432043	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2432051	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432052	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2432054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2438514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28408024	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2918375	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918378	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2918379	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2918380	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945945	0.90[CHB][hapmap]
rs2945950	0.91[CHB][hapmap]
rs2945961	0.90[CHB][hapmap]
rs2945972	0.90[CHB][hapmap]
rs2945993	0.90[CHB][hapmap]
rs2967484	0.95[CHB][hapmap]
rs2967504	0.82[CHB][hapmap]
rs2967506	0.95[CHB][hapmap]
rs2967517	0.81[CHB][hapmap]
rs2967518	0.85[CHB][hapmap]
rs2967521	0.90[CHB][hapmap]
rs2967524	0.81[CHB][hapmap]
rs2972321	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972537	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972539	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972542	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806283	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6510527	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7251727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8102020	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 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	chr19:36704000-36707400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:36704600-36707200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:36704600-36707200	Active TSS	NH-A	brain
4	chr19:36704600-36707400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:36704600-36707400	Active TSS	A549	lung
6	chr19:36704600-36707600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:36704600-36707800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:36704600-36708000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:36704800-36706800	Active TSS	Aorta	Aorta
10	chr19:36704800-36707000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:36704800-36707400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:36704800-36707600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:36704800-36707600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:36704800-36707600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:36704800-36707600	Active TSS	Psoas Muscle	Psoas
16	chr19:36704800-36707800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:36704800-36707800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:36704800-36708400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:36705000-36706800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36705000-36706800	Active TSS	Small Intestine	intestine
21	chr19:36705000-36707000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:36705000-36707000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:36705000-36707000	Active TSS	Fetal Intestine Large	intestine
24	chr19:36705000-36707000	Active TSS	Fetal Intestine Small	intestine
25	chr19:36705000-36707000	Active TSS	Ovary	ovary
26	chr19:36705000-36707000	Active TSS	NHDF-Ad	bronchial
27	chr19:36705000-36707400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:36705000-36707600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:36705000-36707800	Active TSS	HSMMtube	muscle
30	chr19:36705200-36706800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:36705200-36706800	Active TSS	Brain Hippocampus Middle	brain
32	chr19:36705200-36706800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36705200-36706800	Active TSS	Esophagus	oesophagus
34	chr19:36705200-36706800	Active TSS	Gastric	stomach
35	chr19:36705200-36706800	Active TSS	Lung	lung
36	chr19:36705200-36706800	Active TSS	Pancreas	Pancrea
37	chr19:36705200-36706800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr19:36705200-36706800	Active TSS	Spleen	Spleen
39	chr19:36705200-36707000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36705200-36707000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:36705200-36707000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:36705200-36707000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36705200-36707000	Active TSS	Brain Cingulate Gyrus	brain
44	chr19:36705200-36707000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr19:36705200-36707000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:36705200-36707000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:36705200-36707000	Active TSS	Fetal Kidney	kidney
48	chr19:36705200-36707000	Active TSS	Left Ventricle	heart
49	chr19:36705200-36707000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:36705200-36707000	Active TSS	Rectal Smooth Muscle	rectum

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