Variant report

Variant	rs8034340
Chromosome Location	chr15:51777033-51777034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr15:51776958-51777361	K562	blood:	n/a	n/a
2	ZNF384	chr15:51777033-51777345	K562	blood:	n/a	n/a
3	KAP1	chr15:51776733-51777778	K562	blood:	n/a	n/a
4	CBX3	chr15:51777015-51777300	K562	blood:	n/a	n/a
5	SETDB1	chr15:51776747-51777525	U2OS	brain:	n/a	n/a
6	TRIM28	chr15:51777019-51777291	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51772368..51774826-chr15:51775779..51778776,2	K562	blood:
2	chr15:51770845..51772566-chr15:51776340..51779147,2	MCF-7	breast:
3	chr15:51773834..51778249-chr15:51779820..51782019,4	K562	blood:
4	chr15:51776385..51778052-chr15:51779889..51781997,2	MCF-7	breast:

No data

Variant related genes	Relation type
DMXL2	TF binding region
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10467923	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11070850	0.90[EUR][1000 genomes]
rs11070852	0.97[ASN][1000 genomes]
rs11070862	0.81[CHB][hapmap]
rs11855041	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12908028	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes]
rs17648128	0.82[CHB][hapmap]
rs17704742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869930	0.89[EUR][1000 genomes]
rs2258064	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414104	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2414108	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445746	0.86[CHB][hapmap]
rs2445751	0.87[CHB][hapmap]
rs2470192	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2470194	0.91[CHB][hapmap]
rs2607111	0.89[EUR][1000 genomes]
rs2607113	0.87[EUR][1000 genomes]
rs28362471	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34604744	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4359386	1.00[EUR][1000 genomes]
rs4436729	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4462536	1.00[EUR][1000 genomes]
rs4775945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775950	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775967	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6493498	0.96[CHB][hapmap];0.94[ASN][1000 genomes]
rs6493502	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493504	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164999	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7176988	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024233	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8025536	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8030113	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030534	0.94[ASN][1000 genomes]
rs898135	0.86[CHB][hapmap]
rs930919	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8034340	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51738200-51784600	Weak transcription	Stomach Mucosa	stomach
2	chr15:51738400-51777400	Weak transcription	Small Intestine	intestine
3	chr15:51743000-51780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:51749200-51777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:51750800-51777400	Weak transcription	Osteobl	bone
6	chr15:51751000-51777400	Weak transcription	NHLF	lung
7	chr15:51751200-51777200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:51751800-51777400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:51754400-51777400	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:51763200-51777400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:51763600-51826800	Weak transcription	Colonic Mucosa	Colon
12	chr15:51763800-51782000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:51763800-51784000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:51769000-51777200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:51773000-51782000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:51774600-51779800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr15:51775000-51777800	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr15:51775000-51778400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr15:51775000-51778400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr15:51775000-51778800	ZNF genes & repeats	Fetal Brain Female	brain
21	chr15:51775000-51779000	ZNF genes & repeats	Dnd41	blood
22	chr15:51775000-51784800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:51775200-51777600	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr15:51775200-51778600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr15:51775200-51778600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr15:51775200-51779000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:51775200-51779000	ZNF genes & repeats	Fetal Lung	lung
28	chr15:51775400-51777800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr15:51775400-51777800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
30	chr15:51775400-51778600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:51775400-51778600	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr15:51775600-51777400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr15:51776000-51777800	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr15:51776000-51778000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:51776000-51778000	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr15:51776000-51778000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr15:51776000-51778400	ZNF genes & repeats	A549	lung
38	chr15:51776000-51779400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:51776200-51777800	ZNF genes & repeats	NHDF-Ad	bronchial
40	chr15:51776200-51778400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr15:51776200-51778600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr15:51776200-51778600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:51776200-51778800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:51776400-51777800	ZNF genes & repeats	Liver	Liver
45	chr15:51776400-51778200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr15:51776400-51778400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:51776400-51778600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr15:51776400-51778800	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr15:51776400-51778800	ZNF genes & repeats	K562	blood
50	chr15:51776600-51777400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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