Variant report

Variant	rs10418448
Chromosome Location	chr19:40444718-40444719
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	POLR2A	chr19:40444300-40444863	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40440432..40442359-chr19:40443718..40445248,2	K562	blood:

Variant related genes	Relation type
FCGBP	TF binding region
ENSG00000090920	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10410695	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs16973601	1.00[EUR][1000 genomes]
rs16973603	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8104264	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv978815	chr19:40443651-40449610	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40440800-40447000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:40441200-40449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:40441800-40447200	Weak transcription	Esophagus	oesophagus
4	chr19:40442000-40446400	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:40442000-40450400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:40442200-40447000	Weak transcription	Gastric	stomach
7	chr19:40442400-40449000	Weak transcription	Pancreas	Pancrea
8	chr19:40442400-40450400	Weak transcription	Lung	lung
9	chr19:40442600-40447000	Weak transcription	Small Intestine	intestine
10	chr19:40443000-40446800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:40443000-40447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:40443600-40446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:40443600-40447000	Weak transcription	Colonic Mucosa	Colon
14	chr19:40443600-40447000	Weak transcription	Fetal Muscle Leg	muscle
15	chr19:40443600-40447000	Weak transcription	Placenta	Placenta
16	chr19:40443600-40447000	Weak transcription	Fetal Thymus	thymus
17	chr19:40443800-40445400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr19:40443800-40445600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:40443800-40445600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:40443800-40445800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:40443800-40446000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:40443800-40446000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:40443800-40446200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:40443800-40446600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:40444000-40445200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:40444000-40445600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:40444000-40446600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:40444200-40445200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:40444200-40445400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:40444200-40446800	Weak transcription	Stomach Mucosa	stomach
31	chr19:40444400-40445600	Enhancers	A549	lung
32	chr19:40444600-40445600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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