Variant report

Variant	rs10432197
Chromosome Location	chr18:43542564-43542565
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	chr18:43541351..43543380-chr18:43545435..43548099,2	K562	blood:

Variant related genes	Relation type
ENSG00000152223	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10432160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082498	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11082499	0.85[ASN][1000 genomes]
rs11082501	0.91[ASN][1000 genomes]
rs11661333	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs12232683	0.88[ASN][1000 genomes]
rs12454420	0.91[ASN][1000 genomes]
rs12604430	0.90[ASN][1000 genomes]
rs12604492	0.88[ASN][1000 genomes]
rs1371976	0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1573404	0.93[ASN][1000 genomes]
rs1893523	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2004084	0.89[ASN][1000 genomes]
rs2004085	0.84[ASN][1000 genomes]
rs28430300	0.91[ASN][1000 genomes]
rs28729696	0.85[ASN][1000 genomes]
rs34775986	0.82[ASN][1000 genomes]
rs3745000	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629066	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475452	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs481755	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs507653	0.85[JPT][hapmap]
rs57011365	0.87[ASN][1000 genomes]
rs57531499	0.88[ASN][1000 genomes]
rs58306126	0.85[ASN][1000 genomes]
rs58312765	0.91[ASN][1000 genomes]
rs584397	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59884993	0.91[ASN][1000 genomes]
rs60288752	0.87[ASN][1000 genomes]
rs60866799	0.93[ASN][1000 genomes]
rs61363974	0.88[ASN][1000 genomes]
rs61449207	0.92[ASN][1000 genomes]
rs61680317	0.91[ASN][1000 genomes]
rs630625	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6507648	0.84[ASN][1000 genomes]
rs6507652	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7226881	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7230104	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7231179	0.90[AMR][1000 genomes]
rs7231317	0.84[AMR][1000 genomes]
rs7234750	0.84[ASN][1000 genomes]
rs7235022	0.85[ASN][1000 genomes]
rs7235629	0.93[ASN][1000 genomes]
rs7238724	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242733	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72918390	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73953913	0.85[ASN][1000 genomes]
rs73953914	0.85[ASN][1000 genomes]
rs8086401	0.88[ASN][1000 genomes]
rs8087546	0.93[ASN][1000 genomes]
rs8088080	0.81[ASN][1000 genomes]
rs8088153	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8093119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094023	0.84[ASN][1000 genomes]
rs8097415	0.88[ASN][1000 genomes]
rs8098012	0.82[ASN][1000 genomes]
rs8098175	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098701	0.84[ASN][1000 genomes]
rs9946797	0.85[ASN][1000 genomes]
rs9946933	0.85[ASN][1000 genomes]
rs9948634	0.87[AMR][1000 genomes]
rs9948988	0.85[ASN][1000 genomes]
rs9955285	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs9955829	0.82[ASN][1000 genomes]
rs9957288	0.87[ASN][1000 genomes]
rs9958844	0.87[ASN][1000 genomes]
rs9959763	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9959893	0.84[ASN][1000 genomes]
rs9962353	0.82[ASN][1000 genomes]
rs9963463	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs9964220	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9964347	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9965433	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10432197	KIAA1632	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
3	chr18:43519200-43546600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43529000-43546400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:43534200-43545600	Weak transcription	Fetal Brain Male	brain
6	chr18:43534600-43546600	Weak transcription	Gastric	stomach
7	chr18:43535000-43546400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:43535000-43546400	Weak transcription	GM12878-XiMat	blood
9	chr18:43535200-43542600	Weak transcription	K562	blood
10	chr18:43535200-43543000	Weak transcription	Right Ventricle	heart
11	chr18:43535200-43543200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr18:43535200-43545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:43535200-43545200	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:43535200-43545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:43535200-43545400	Weak transcription	Brain Angular Gyrus	brain
16	chr18:43535200-43545600	Weak transcription	Brain Germinal Matrix	brain
17	chr18:43535200-43545600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:43535200-43545600	Weak transcription	Small Intestine	intestine
19	chr18:43535200-43546000	Weak transcription	Fetal Intestine Small	intestine
20	chr18:43535200-43546200	Weak transcription	HUVEC	blood vessel
21	chr18:43535200-43546400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:43535200-43546400	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:43535200-43546400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:43535200-43546400	Weak transcription	Fetal Stomach	stomach
25	chr18:43535200-43546400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr18:43535200-43546600	Weak transcription	Spleen	Spleen
27	chr18:43535400-43545000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:43535400-43545600	Weak transcription	Hela-S3	cervix
29	chr18:43535400-43545800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr18:43535400-43546200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr18:43535400-43546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:43535400-43546400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:43535400-43546400	Weak transcription	Brain Anterior Caudate	brain
34	chr18:43535400-43546400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:43535400-43546400	Weak transcription	Brain Substantia Nigra	brain
36	chr18:43535400-43546400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr18:43535600-43546400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:43535600-43546400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:43535600-43546400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:43535600-43546400	Weak transcription	Fetal Lung	lung
41	chr18:43535800-43543000	Weak transcription	Placenta	Placenta
42	chr18:43535800-43545800	Weak transcription	Colonic Mucosa	Colon
43	chr18:43535800-43546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:43536000-43545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:43536000-43545800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr18:43536200-43545200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:43536200-43545400	Weak transcription	Liver	Liver
48	chr18:43536200-43546200	Weak transcription	Fetal Brain Female	brain
49	chr18:43536200-43546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:43536200-43546400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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