Variant report

Variant	rs3760919
Chromosome Location	chr19:40442993-40442994
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	RELA	chr19:40442886-40443387	GM19099	blood:	n/a	n/a
2	RUNX3	chr19:40442891-40443493	GM12878	blood:	n/a	n/a
3	RELA	chr19:40442905-40443602	GM18951	blood:	n/a	n/a
4	RCOR1	chr19:40442993-40443177	GM12878	blood:	n/a	n/a
5	RELA	chr19:40442819-40443449	GM12891	blood:	n/a	n/a
6	TCF12	chr19:40440113-40444572	A549	lung:	n/a	chr19:40442444-40442454 chr19:40442130-40442140 chr19:40442317-40442326 chr19:40440845-40440855 chr19:40441092-40441102
7	RUNX3	chr19:40442971-40443393	GM12878	blood:	n/a	n/a
8	RELA	chr19:40442937-40443347	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40441756..40443271-chr19:40480700..40482309,2	K562	blood:

Variant related genes	Relation type
FCGBP	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs170900	0.93[GIH][hapmap]
rs186816	0.86[GIH][hapmap]
rs2231738	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs234365	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs234370	0.85[GIH][hapmap]
rs2355720	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs371500	0.85[GIH][hapmap]
rs3760920	0.83[YRI][hapmap]
rs3760923	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3786938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3826919	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421533	0.85[GIH][hapmap]
rs424365	0.81[ASN][1000 genomes]
rs426950	0.85[GIH][hapmap]
rs427461	0.83[CHB][hapmap]
rs459091	0.85[GIH][hapmap]
rs7249286	0.93[GIH][hapmap]
rs7249890	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8105066	0.85[GIH][hapmap]
rs8106269	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109718	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109879	0.98[ASN][1000 genomes]
rs9749001	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40438600-40443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40439800-40443800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40439800-40443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40439800-40443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40439800-40444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40440000-40443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:40440000-40443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:40440000-40444000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:40440000-40444000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:40440200-40443800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:40440400-40443600	Enhancers	Spleen	Spleen
14	chr19:40440400-40443800	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:40440600-40443800	Enhancers	Primary T cells from cord blood	blood
16	chr19:40440600-40443800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:40440600-40444000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr19:40440800-40443000	Enhancers	Primary B cells from cord blood	blood
19	chr19:40440800-40443600	Enhancers	Colonic Mucosa	Colon
20	chr19:40440800-40443800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:40440800-40444000	Enhancers	Fetal Intestine Small	intestine
22	chr19:40440800-40444600	Enhancers	Fetal Intestine Large	intestine
23	chr19:40440800-40447000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:40441000-40443000	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:40441000-40443200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr19:40441000-40443800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:40441000-40443800	Enhancers	GM12878-XiMat	blood
28	chr19:40441200-40449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:40441600-40443600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr19:40441600-40443600	Enhancers	Fetal Thymus	thymus
31	chr19:40441800-40443200	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr19:40441800-40444200	Enhancers	Stomach Mucosa	stomach
33	chr19:40441800-40447200	Weak transcription	Esophagus	oesophagus
34	chr19:40442000-40446400	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:40442000-40450400	Weak transcription	Brain Substantia Nigra	brain
36	chr19:40442200-40443200	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:40442200-40443600	Enhancers	Fetal Muscle Trunk	muscle
38	chr19:40442200-40444400	Enhancers	HepG2	liver
39	chr19:40442200-40447000	Weak transcription	Gastric	stomach
40	chr19:40442400-40449000	Weak transcription	Pancreas	Pancrea
41	chr19:40442400-40450400	Weak transcription	Lung	lung
42	chr19:40442600-40443200	Enhancers	A549	lung
43	chr19:40442600-40443600	Enhancers	Placenta	Placenta
44	chr19:40442600-40444000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr19:40442600-40447000	Weak transcription	Small Intestine	intestine
46	chr19:40442800-40443000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:40442800-40443400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:40442800-40443600	Enhancers	Skeletal Muscle Female	skeletal muscle

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