Variant report

Variant	rs28701616
Chromosome Location	chr19:37681098-37681099
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	MAFK	chr19:37681058-37681129	HepG2	liver:	n/a	chr19:37681075-37681095 chr19:37681078-37681092 chr19:37681077-37681093

Variant related genes	Relation type
ZNF585B	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10401525	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10402050	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10404069	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10405372	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10406612	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10407224	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10410905	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10411037	0.80[EUR][1000 genomes]
rs10411176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413304	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10414983	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10417545	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10418314	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419174	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422428	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10424841	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10425441	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426093	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11084873	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12972146	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12975869	0.84[EUR][1000 genomes]
rs12978093	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12983153	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1617883	0.80[EUR][1000 genomes]
rs2385412	0.81[ASN][1000 genomes]
rs28462002	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28660259	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34915391	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35522655	0.84[ASN][1000 genomes]
rs4473303	0.89[ASN][1000 genomes]
rs4805198	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4805207	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4805208	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806406	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806414	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62108899	0.86[ASN][1000 genomes]
rs62109879	0.80[EUR][1000 genomes]
rs6510583	0.81[ASN][1000 genomes]
rs8101338	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8111936	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
13	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
2	chr19:37670000-37681200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37672000-37686400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:37672200-37686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37672800-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37673400-37685400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:37673800-37685600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:37676600-37685200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:37676800-37681200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:37676800-37683000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:37676800-37683400	ZNF genes & repeats	Fetal Lung	lung
14	chr19:37676800-37684600	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr19:37676800-37686000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr19:37676800-37686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:37677000-37681200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:37677000-37681200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr19:37677000-37681200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:37677000-37681200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:37677000-37681200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr19:37677000-37681200	ZNF genes & repeats	Left Ventricle	heart
23	chr19:37677000-37681200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr19:37677000-37683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:37677000-37683400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:37677000-37684800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:37677000-37685600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr19:37677000-37686000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:37677000-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:37677000-37686000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:37677000-37686200	ZNF genes & repeats	Ovary	ovary
32	chr19:37677200-37682600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
33	chr19:37677200-37683000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
34	chr19:37677200-37683400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:37677200-37685400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:37677200-37687600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr19:37677400-37684600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:37677400-37685000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr19:37677600-37681200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:37678000-37681200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:37678200-37681200	Strong transcription	Brain Angular Gyrus	brain
42	chr19:37678400-37681200	Strong transcription	Right Ventricle	heart
43	chr19:37678400-37685000	Strong transcription	Brain Anterior Caudate	brain
44	chr19:37678600-37684800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:37678600-37686200	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:37678800-37684800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:37679000-37683000	ZNF genes & repeats	Aorta	Aorta
48	chr19:37679000-37683000	ZNF genes & repeats	Lung	lung
49	chr19:37679000-37684800	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr19:37679000-37685400	ZNF genes & repeats	Fetal Stomach	stomach

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