Variant report

Variant	rs8030239
Chromosome Location	chr15:93500862-93500863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11074123	1.00[ASN][1000 genomes]
rs11074124	1.00[ASN][1000 genomes]
rs12900800	1.00[ASN][1000 genomes]
rs1406712	1.00[ASN][1000 genomes]
rs1470072	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17525576	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17610095	0.88[EUR][1000 genomes]
rs17610312	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272458	1.00[ASN][1000 genomes]
rs4778064	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245530	1.00[ASN][1000 genomes]
rs6497014	1.00[ASN][1000 genomes]
rs7173808	0.86[EUR][1000 genomes]
rs7179483	1.00[ASN][1000 genomes]
rs7180629	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032603	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041241	0.88[EUR][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
rs8030239	CHD2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93474800-93501800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:93477200-93501200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:93478600-93503200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:93493000-93508600	Strong transcription	Hela-S3	cervix
5	chr15:93493200-93503800	Strong transcription	Brain Substantia Nigra	brain
6	chr15:93493200-93504400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:93493200-93504800	Strong transcription	Fetal Kidney	kidney
8	chr15:93493200-93508200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:93493200-93512200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:93493200-93533000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:93493200-93536000	Strong transcription	HSMM	muscle
12	chr15:93493200-93571000	Strong transcription	Dnd41	blood
13	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr15:93493400-93501400	Strong transcription	HSMMtube	muscle
15	chr15:93493400-93501600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:93493400-93501600	Strong transcription	Brain Hippocampus Middle	brain
17	chr15:93493400-93501800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:93493400-93503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:93493400-93504800	Strong transcription	Brain Anterior Caudate	brain
20	chr15:93493400-93505000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr15:93493400-93505800	Strong transcription	Fetal Lung	lung
22	chr15:93493400-93508200	Strong transcription	Primary B cells from cord blood	blood
23	chr15:93493400-93508400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:93493400-93511800	Strong transcription	Adipose Nuclei	Adipose
25	chr15:93493400-93511800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:93493400-93548000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr15:93493400-93568600	Strong transcription	Liver	Liver
28	chr15:93493400-93569600	Strong transcription	Placenta	Placenta
29	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:93493600-93501000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr15:93493600-93504800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:93493600-93510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:93493600-93521600	Strong transcription	Osteobl	bone
35	chr15:93493600-93523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:93493800-93501600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:93493800-93502600	Strong transcription	NHLF	lung
39	chr15:93493800-93505000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:93493800-93508200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:93493800-93508200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:93493800-93522400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr15:93493800-93532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:93493800-93561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:93494000-93501000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:93494000-93501200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:93494000-93501600	Strong transcription	Colon Smooth Muscle	Colon
49	chr15:93494000-93502600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:93494000-93502800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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