Variant report

Variant	rs8043510
Chromosome Location	chr15:93159737-93159738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93153498..93156346-chr15:93158653..93161717,3	K562	blood:
2	chr15:93156262..93161664-chr15:93196023..93200716,9	MCF-7	breast:
3	chr15:93155996..93163499-chr15:93183947..93191862,21	MCF-7	breast:
4	chr15:93154756..93169106-chr15:93177301..93183879,27	MCF-7	breast:
5	chr15:93149179..93150944-chr15:93158829..93160923,2	MCF-7	breast:
6	chr15:93143587..93145344-chr15:93159569..93162051,2	MCF-7	breast:
7	chr15:93158882..93161431-chr15:93210575..93212968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17523840	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255908	0.92[JPT][hapmap]
rs28497802	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs285713	0.83[ASN][1000 genomes]
rs28664631	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs404285	0.92[JPT][hapmap]
rs410363	0.92[JPT][hapmap]
rs422472	0.84[JPT][hapmap]
rs6496962	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6496963	0.91[CEU][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6496964	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8032683	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8035858	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8041521	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8042357	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8042515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1808537	chr15:93146057-93191935	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8043510	CHD2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93139400-93159800	Weak transcription	Fetal Lung	lung
2	chr15:93142200-93160400	Weak transcription	Right Atrium	heart
3	chr15:93143600-93160000	Weak transcription	Right Ventricle	heart
4	chr15:93146800-93160000	Weak transcription	Psoas Muscle	Psoas
5	chr15:93150000-93160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:93151200-93160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:93151400-93167400	Weak transcription	Brain Germinal Matrix	brain
8	chr15:93151600-93178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:93152800-93166800	Weak transcription	Esophagus	oesophagus
10	chr15:93154200-93159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:93154200-93159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:93154200-93160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:93154800-93160600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:93155000-93160600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:93156000-93160200	Enhancers	Stomach Mucosa	stomach
16	chr15:93156000-93160400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:93156000-93167000	Weak transcription	Brain Anterior Caudate	brain
18	chr15:93156400-93160200	Strong transcription	Fetal Stomach	stomach
19	chr15:93156400-93167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:93156600-93162600	Weak transcription	Brain Angular Gyrus	brain
21	chr15:93156600-93162600	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:93156600-93163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:93156600-93163600	Enhancers	Pancreas	Pancrea
24	chr15:93156600-93168400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:93156800-93160400	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:93156800-93162600	Weak transcription	Aorta	Aorta
27	chr15:93156800-93166600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:93157000-93162800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:93157200-93160200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:93157600-93159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:93157600-93162400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr15:93157800-93161600	Weak transcription	GM12878-XiMat	blood
33	chr15:93158000-93160000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:93158000-93160000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:93158000-93167600	Enhancers	Fetal Muscle Trunk	muscle
36	chr15:93158400-93159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:93158400-93159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:93158400-93163200	Weak transcription	Adipose Nuclei	Adipose
39	chr15:93158400-93164600	Enhancers	Fetal Muscle Leg	muscle
40	chr15:93158400-93167600	Weak transcription	Spleen	Spleen
41	chr15:93158600-93160800	Enhancers	HSMMtube	muscle
42	chr15:93158600-93169800	Weak transcription	Primary T cells from cord blood	blood
43	chr15:93159000-93159800	Weak transcription	Gastric	stomach
44	chr15:93159000-93160000	Weak transcription	Liver	Liver
45	chr15:93159200-93160200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:93159400-93160400	Enhancers	K562	blood
47	chr15:93159400-93161800	Enhancers	Fetal Intestine Small	intestine
48	chr15:93159400-93166400	Weak transcription	Fetal Thymus	thymus
49	chr15:93159600-93160200	Enhancers	HepG2	liver
50	chr15:93159600-93160600	Enhancers	HSMM	muscle

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