Variant report

Variant	rs8111860
Chromosome Location	chr19:36700154-36700155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36690805..36693651-chr19:36696713..36700179,3	K562	blood:
2	chr19:36696465..36701554-chr19:36701751..36706711,6	MCF-7	breast:
3	chr19:36693762..36695951-chr19:36697692..36700584,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167635	Chromatin interaction
ENSG00000200179	Chromatin interaction
ENSG00000196357	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10403738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10407835	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10407850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10409983	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10412832	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10415410	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10416509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10416742	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10416925	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419269	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10425166	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11882933	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12459704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12460466	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12461077	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12461112	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12461855	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12462725	0.91[CHB][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap]
rs28414272	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28528757	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2857	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap]
rs2945955	0.90[CHB][hapmap]
rs3098393	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs4361039	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4806284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806293	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806294	0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4806295	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56206115	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56316708	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56686317	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57385903	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57734651	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59026641	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59295196	0.81[ASN][1000 genomes]
rs61413061	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62113093	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62113146	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7251745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73038028	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040107	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8106135	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8111860	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs8111860	ZFP14	cis	lymphoblastoid	seeQTL
rs8111860	ZNF527	cis	cerebellum	SCAN
rs8111860	LINC00665	cis	Adipose Subcutaneous	GTEx
rs8111860	LINC00665	cis	Muscle Skeletal	GTEx
rs8111860	ZNF222	cis	parietal	SCAN
rs8111860	ZNF781	cis	cerebellum	SCAN
rs8111860	MEGF8	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
2	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
3	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
5	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:36674600-36704600	Weak transcription	HMEC	breast
7	chr19:36674600-36704600	Weak transcription	NH-A	brain
8	chr19:36674600-36704600	Weak transcription	NHEK	skin
9	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
11	chr19:36685200-36704800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:36685400-36704600	Weak transcription	HSMM	muscle
13	chr19:36685800-36704600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:36685800-36704800	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:36686000-36702800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:36686000-36703800	Weak transcription	Dnd41	blood
17	chr19:36686000-36704000	Weak transcription	Pancreas	Pancrea
18	chr19:36686000-36704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:36686000-36704600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:36686000-36704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:36686000-36704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:36686000-36704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:36686000-36704600	Weak transcription	Colonic Mucosa	Colon
24	chr19:36686000-36704600	Weak transcription	Gastric	stomach
25	chr19:36686000-36704600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:36686000-36704600	Weak transcription	Spleen	Spleen
27	chr19:36686000-36704600	Weak transcription	Osteobl	bone
28	chr19:36686000-36704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:36686000-36704800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:36686000-36704800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:36686000-36704800	Weak transcription	Placenta	Placenta
32	chr19:36686000-36704800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:36686000-36704800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:36686000-36704800	Weak transcription	Thymus	Thymus
35	chr19:36686200-36701400	Weak transcription	A549	lung
36	chr19:36686200-36704000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:36686200-36704000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:36686200-36704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:36686200-36704800	Weak transcription	Primary B cells from cord blood	blood
40	chr19:36686200-36704800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:36686200-36704800	Weak transcription	Left Ventricle	heart
42	chr19:36686200-36704800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:36686400-36704600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:36686400-36704800	Weak transcription	Fetal Lung	lung
45	chr19:36689600-36704600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:36689800-36704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:36690400-36704600	Weak transcription	NHDF-Ad	bronchial
48	chr19:36692000-36704000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:36692200-36704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:36692800-36704600	Weak transcription	Primary T cells fromperipheralblood	blood

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