Variant report

Variant	rs3108597
Chromosome Location	chr19:37065914-37065915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr19:37065903-37065985	GM12878	blood:	n/a	n/a
2	CEBPB	chr19:37065711-37066009	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37017989..37021035-chr19:37064029..37066517,3	MCF-7	breast:
2	chr19:36704361..36705921-chr19:37063810..37066277,2	K562	blood:
3	chr19:37018040..37020429-chr19:37065746..37067402,2	K562	blood:
4	chr19:36979379..36982047-chr19:37063909..37066157,2	K562	blood:
5	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
6	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
7	chr19:37017781..37019790-chr19:37064970..37066905,2	MCF-7	breast:
8	chr19:37065150..37067798-chr19:37072514..37074047,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233527	TF binding region
ZNF529	TF binding region
ENSG00000167635	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10402486	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10407386	0.83[EUR][1000 genomes]
rs11084862	0.88[EUR][1000 genomes]
rs12610353	0.85[EUR][1000 genomes]
rs1830031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2033077	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217081	0.89[EUR][1000 genomes]
rs2385642	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2385643	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967453	0.86[ASN][1000 genomes]
rs3096617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3096618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096619	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096622	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096623	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096627	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096628	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096629	0.96[ASN][1000 genomes]
rs3096630	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096633	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096635	0.84[EUR][1000 genomes]
rs3096636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108166	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108167	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108168	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108171	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[EUR][1000 genomes]
rs3108172	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108179	0.85[EUR][1000 genomes]
rs3108181	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs3108182	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3108184	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108187	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108189	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108190	0.88[EUR][1000 genomes]
rs3108191	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs3108192	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3108193	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108196	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3108197	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108205	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108206	0.81[AMR][1000 genomes]
rs3108208	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs3108215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108542	0.95[EUR][1000 genomes]
rs3108543	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs3108544	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108549	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3108550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108552	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108555	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108562	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108563	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3108564	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108565	0.83[EUR][1000 genomes]
rs3108566	0.85[EUR][1000 genomes]
rs3108567	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108568	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108570	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108572	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108574	0.85[EUR][1000 genomes]
rs3108575	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108576	0.85[EUR][1000 genomes]
rs3108577	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108579	0.85[EUR][1000 genomes]
rs3108580	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3108600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108602	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108603	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108604	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108607	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108608	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108609	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs3108610	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3111541	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111542	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111547	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3111549	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3111550	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34002069	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34395293	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4572520	0.95[EUR][1000 genomes]
rs4806336	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62113945	0.86[ASN][1000 genomes]
rs7245414	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248477	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252957	0.82[EUR][1000 genomes]
rs7259195	0.95[EUR][1000 genomes]
rs7259256	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs8105197	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3108597	AC092295.7	cis	Esophagus Muscularis	GTEx
rs3108597	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37062800-37066000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:37062800-37066000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:37063000-37066000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:37063400-37066000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:37063600-37066000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:37064600-37068800	ZNF genes & repeats	A549	lung
7	chr19:37064800-37066000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:37065000-37066000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:37065000-37066000	Flanking Active TSS	Osteobl	bone
10	chr19:37065200-37066000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:37065200-37066200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:37065200-37066200	Enhancers	Fetal Heart	heart
13	chr19:37065200-37067200	Weak transcription	Aorta	Aorta
14	chr19:37065200-37068000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:37065200-37068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:37065400-37066000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr19:37065400-37066000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:37065400-37066000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:37065400-37066000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:37065400-37066200	Flanking Active TSS	Fetal Kidney	kidney
21	chr19:37065400-37066200	Flanking Active TSS	Fetal Lung	lung
22	chr19:37065400-37066200	ZNF genes & repeats	GM12878-XiMat	blood
23	chr19:37065400-37067000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:37065400-37067000	Weak transcription	Fetal Thymus	thymus
25	chr19:37065400-37067000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:37065400-37067800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:37065400-37068000	Weak transcription	Gastric	stomach
28	chr19:37065400-37068000	Weak transcription	Left Ventricle	heart
29	chr19:37065600-37066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:37065600-37066000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr19:37065600-37066000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:37065600-37066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:37065600-37066000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:37065600-37066000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:37065600-37066000	Enhancers	Fetal Brain Female	brain
36	chr19:37065600-37066000	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr19:37065600-37066000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr19:37065600-37066200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:37065600-37066200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr19:37065600-37066200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:37065600-37066200	Enhancers	Adipose Nuclei	Adipose
42	chr19:37065600-37066200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr19:37065600-37066200	Enhancers	Colon Smooth Muscle	Colon
44	chr19:37065600-37066200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr19:37065600-37066200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr19:37065600-37066200	Enhancers	Fetal Brain Male	brain
47	chr19:37065600-37066200	Enhancers	HUVEC	blood vessel
48	chr19:37065600-37066200	Enhancers	K562	blood
49	chr19:37065600-37066200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr19:37065600-37066600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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