Variant report

Variant	rs1881834
Chromosome Location	chr15:93490656-93490657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:93490561-93491103	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:93490632-93490783	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:93490516-93491052	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:93490462-93491070	K562	blood:	n/a	n/a
5	POLR2A	chr15:93490380-93490788	K562	blood:	n/a	n/a
6	POLR2A	chr15:93490285-93490753	K562	blood:	n/a	n/a
7	POLR2A	chr15:93490299-93491021	U87	brain:	n/a	n/a
8	POLR2A	chr15:93490114-93491661	K562	blood:	n/a	n/a
9	POLR2A	chr15:93490305-93491021	U87	brain:	n/a	n/a
10	POLR2A	chr15:93490314-93491086	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr15:93490319-93491180	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:93490508-93491009	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:93490420-93490726	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:93490153-93491661	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93481880..93488025-chr15:93488179..93492236,5	K562	blood:
2	chr15:93479767..93482269-chr15:93490198..93491804,2	K562	blood:
3	chr15:93482816..93485781-chr15:93488823..93491729,2	K562	blood:

No data

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000173575	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10520718	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1074512	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11074120	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11857466	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11857669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12591124	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12592920	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12594474	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12908494	0.83[AMR][1000 genomes]
rs12914956	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17610487	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1881835	0.87[AMR][1000 genomes]
rs2388055	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34448107	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36032658	0.81[EUR][1000 genomes]
rs3736619	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3743469	0.83[AMR][1000 genomes]
rs3784785	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3826036	0.83[AMR][1000 genomes]
rs62023146	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6497010	0.84[AMR][1000 genomes]
rs6497011	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6497013	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7171151	0.81[AMR][1000 genomes]
rs7174043	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7176652	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179863	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8024528	0.83[AMR][1000 genomes]
rs8026679	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8042395	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8042632	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9302362	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1881834	CHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93474000-93491400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr15:93474400-93492200	Strong transcription	Fetal Kidney	kidney
3	chr15:93474800-93490800	Strong transcription	HSMM	muscle
4	chr15:93474800-93492200	Strong transcription	HSMMtube	muscle
5	chr15:93474800-93492200	Strong transcription	Osteobl	bone
6	chr15:93474800-93501800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:93475000-93492600	Strong transcription	NHDF-Ad	bronchial
8	chr15:93475800-93492200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr15:93476200-93490800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:93476800-93490800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:93476800-93492200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:93477200-93493000	Strong transcription	Placenta	Placenta
13	chr15:93477200-93501200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:93478200-93491200	Strong transcription	HUVEC	blood vessel
15	chr15:93478600-93503200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:93480400-93490800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:93480400-93493000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:93480600-93492200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:93480800-93492000	Strong transcription	Colonic Mucosa	Colon
20	chr15:93480800-93492600	Strong transcription	Brain Anterior Caudate	brain
21	chr15:93480800-93494000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:93481000-93490800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:93481000-93491200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:93481000-93492800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr15:93481400-93490800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:93482000-93491800	Strong transcription	Fetal Intestine Large	intestine
27	chr15:93482200-93491000	Strong transcription	Colon Smooth Muscle	Colon
28	chr15:93482400-93492200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr15:93484400-93491400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:93484600-93492600	Strong transcription	Rectal Smooth Muscle	rectum
31	chr15:93485000-93492200	Strong transcription	Fetal Brain Female	brain
32	chr15:93485000-93492600	Strong transcription	Brain Hippocampus Middle	brain
33	chr15:93485000-93492600	Strong transcription	Brain Substantia Nigra	brain
34	chr15:93485000-93494600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:93485200-93492000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:93486000-93495000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:93486400-93493800	Strong transcription	Fetal Brain Male	brain
38	chr15:93486800-93493200	ZNF genes & repeats	Dnd41	blood
39	chr15:93486800-93494400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:93487000-93490800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:93487600-93492000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:93487600-93494000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:93487600-93500000	Strong transcription	Brain Angular Gyrus	brain
44	chr15:93487800-93492000	Strong transcription	Psoas Muscle	Psoas
45	chr15:93488000-93492000	Strong transcription	Left Ventricle	heart
46	chr15:93488200-93491000	Strong transcription	Fetal Stomach	stomach
47	chr15:93488200-93493000	Strong transcription	Lung	lung
48	chr15:93488200-93493200	Strong transcription	Pancreas	Pancrea
49	chr15:93488200-93493600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr15:93488200-93494000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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