Variant report

Variant	rs28406786
Chromosome Location	chr19:41138247-41138248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41137973..41140624-chr19:41195435..41197106,2	K562	blood:
2	chr19:41118449..41121335-chr19:41135713..41138287,4	K562	blood:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000105245	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs366973	1.00[ASN][1000 genomes]
rs3815913	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS 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
12	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41117000-41140200	Weak transcription	Brain Angular Gyrus	brain
2	chr19:41120400-41139800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr19:41120800-41139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:41120800-41140200	Weak transcription	Brain Anterior Caudate	brain
5	chr19:41121400-41140200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:41123400-41140400	Weak transcription	Liver	Liver
7	chr19:41126000-41139000	Weak transcription	NHDF-Ad	bronchial
8	chr19:41126000-41139800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:41126000-41140000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:41126200-41140200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:41127600-41138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:41127600-41140200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:41128200-41140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:41128800-41140200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:41130000-41138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:41130000-41140200	Weak transcription	Brain Germinal Matrix	brain
17	chr19:41130200-41139000	Weak transcription	A549	lung
18	chr19:41130200-41139600	Weak transcription	HUVEC	blood vessel
19	chr19:41130200-41140200	Weak transcription	Right Atrium	heart
20	chr19:41130400-41140200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:41131800-41140000	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:41132200-41138400	Weak transcription	NH-A	brain
23	chr19:41132400-41139200	Weak transcription	Stomach Mucosa	stomach
24	chr19:41132400-41140200	Weak transcription	HMEC	breast
25	chr19:41132600-41138400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:41132800-41139800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:41133000-41140200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:41133000-41140200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:41133000-41140400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:41133200-41140000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:41133400-41140200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:41133800-41139800	Weak transcription	Aorta	Aorta
33	chr19:41133800-41140200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:41133800-41140400	Weak transcription	Esophagus	oesophagus
35	chr19:41134000-41140200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:41134200-41138800	Weak transcription	Primary T cells from cord blood	blood
37	chr19:41134600-41139800	Weak transcription	Hela-S3	cervix
38	chr19:41135200-41139800	Weak transcription	K562	blood
39	chr19:41135400-41140200	Weak transcription	Colonic Mucosa	Colon
40	chr19:41135600-41138400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:41135600-41139800	Weak transcription	Spleen	Spleen
42	chr19:41135800-41138400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:41135800-41140200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:41136000-41138400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:41136000-41138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:41136000-41138800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:41136000-41139000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:41136000-41139800	Weak transcription	NHLF	lung
49	chr19:41136000-41140200	Weak transcription	Adipose Nuclei	Adipose
50	chr19:41136000-41145600	Weak transcription	Ovary	ovary

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