Variant report

Variant	rs2912415
Chromosome Location	chr19:36953656-36953657
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	chr19:36944101..36946636-chr19:36951837..36953729,2	K562	blood:
2	chr19:36952422..36955146-chr19:36978594..36981025,2	K562	blood:

Variant related genes	Relation type
ENSG00000267309	Chromatin interaction
ENSG00000186017	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11665865	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670917	0.81[AMR][1000 genomes]
rs11672024	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11673325	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12971760	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12985198	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17206393	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2385797	0.95[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2912423	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912435	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2912439	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912441	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945953	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2945976	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967443	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967445	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967446	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967453	0.86[AMR][1000 genomes]
rs2967528	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2967530	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2967531	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2967534	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2967535	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2967537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967539	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967540	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096636	0.81[JPT][hapmap]
rs3107235	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3107236	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108196	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs3108209	0.81[JPT][hapmap]
rs3108543	0.81[JPT][hapmap]
rs3108545	0.81[JPT][hapmap]
rs3108596	0.81[JPT][hapmap]
rs3108598	0.86[CEU][hapmap]
rs3108609	0.81[JPT][hapmap]
rs3111553	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34550124	0.81[AMR][1000 genomes]
rs34664029	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34830781	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35408779	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62113910	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104181	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	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
4	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2912415	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
4	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
5	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:36942600-36957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
10	chr19:36943000-36954600	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:36943600-36959200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
13	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:36945400-36955000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:36945400-36959400	Weak transcription	Aorta	Aorta
16	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
17	chr19:36946000-36963000	Weak transcription	K562	blood
18	chr19:36946200-36955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:36946400-36962200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
21	chr19:36946600-36954400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:36946600-36959200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:36947200-36957200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:36947200-36960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
26	chr19:36948000-36962200	Weak transcription	Brain Substantia Nigra	brain
27	chr19:36948200-36954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:36948200-36960600	Weak transcription	Fetal Kidney	kidney
29	chr19:36948200-36962200	Weak transcription	HSMMtube	muscle
30	chr19:36948400-36955200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:36948400-36955200	Strong transcription	Ovary	ovary
32	chr19:36948400-36961000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:36948600-36956000	Weak transcription	Dnd41	blood
34	chr19:36948600-36957000	Weak transcription	Primary B cells from cord blood	blood
35	chr19:36949000-36960800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:36949200-36959400	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:36949400-36954000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:36949400-36957000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:36949400-36957200	Weak transcription	Fetal Lung	lung
40	chr19:36949400-36957200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:36949400-36957400	Weak transcription	Psoas Muscle	Psoas
42	chr19:36949800-36957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:36949800-36957200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:36950200-36955600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:36950200-36958200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr19:36950800-36955000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:36951000-36957000	Weak transcription	Brain Anterior Caudate	brain
48	chr19:36951000-36957800	ZNF genes & repeats	A549	lung
49	chr19:36951200-36957200	Weak transcription	NH-A	brain
50	chr19:36951400-36957000	Weak transcription	Muscle Satellite Cultured Cells	--

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