Variant report

Variant	rs62107871
Chromosome Location	chr19:41080314-41080315
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	CEBPB	chr19:41080225-41080409	K562	blood:	n/a	n/a

Variant related genes	Relation type
SHKBP1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16974365	0.87[ASN][1000 genomes]
rs2290682	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs418007	0.82[ASN][1000 genomes]
rs421739	0.83[ASN][1000 genomes]
rs4803346	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58633563	0.82[ASN][1000 genomes]
rs710160	0.83[ASN][1000 genomes]
rs814518	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs814519	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911718	chr19:41033109-41082868	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41074000-41082200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:41076200-41081400	Weak transcription	Spleen	Spleen
3	chr19:41076400-41081600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:41076400-41081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:41076600-41081200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:41076600-41081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:41076800-41081400	Weak transcription	Right Ventricle	heart
8	chr19:41076800-41082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:41076800-41082200	Weak transcription	Lung	lung
10	chr19:41076800-41082200	Weak transcription	Right Atrium	heart
11	chr19:41077000-41081400	Weak transcription	Placenta	Placenta
12	chr19:41077000-41081800	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:41077000-41082000	Weak transcription	Adipose Nuclei	Adipose
14	chr19:41077200-41081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:41077200-41081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:41077200-41081200	Weak transcription	Fetal Thymus	thymus
17	chr19:41077200-41081400	Weak transcription	Primary B cells from cord blood	blood
18	chr19:41077200-41081600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:41077200-41081600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:41077200-41081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:41077200-41081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:41077200-41081800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:41077200-41082000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41077200-41082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:41077200-41082000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr19:41077200-41082000	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:41077200-41082000	Weak transcription	Brain Substantia Nigra	brain
28	chr19:41077200-41082000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:41077200-41082000	Weak transcription	HUVEC	blood vessel
30	chr19:41077200-41082000	Weak transcription	NHEK	skin
31	chr19:41077200-41082200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:41077200-41082200	Weak transcription	HMEC	breast
33	chr19:41077400-41081200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:41077400-41081400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:41077400-41081600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:41077400-41081600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:41077400-41081600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:41077400-41081600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:41077400-41081800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:41077400-41081800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:41077400-41081800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:41077400-41081800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:41077400-41081800	Weak transcription	GM12878-XiMat	blood
44	chr19:41077400-41082000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:41077400-41082000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:41077400-41082000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:41077400-41082000	Weak transcription	Dnd41	blood
48	chr19:41077600-41081200	Weak transcription	A549	lung
49	chr19:41077600-41081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:41077600-41082000	Weak transcription	K562	blood

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