Variant report

Variant	rs11143622
Chromosome Location	chr9:71370051-71370052
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71370018..71372920-chr9:71376238..71377974,2	K562	blood:
2	chr9:71367737..71370068-chr9:71373359..71374962,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11143615	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11143638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11143694	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11143706	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs11143732	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11143734	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11143833	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11143868	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs11143893	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11143900	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11143991	1.00[EUR][1000 genomes]
rs11143995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11143997	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11144031	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs11144059	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11144102	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11144115	0.91[EUR][1000 genomes]
rs11144174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12236602	0.82[EUR][1000 genomes]
rs17058792	0.86[JPT][hapmap]
rs6560369	1.00[EUR][1000 genomes]
rs7043816	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs7865397	0.89[JPT][hapmap]
rs7866988	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs883951	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11143622	CH25H	trans	brain	seeQTL
rs11143622	FOSB	trans	brain	seeQTL
rs11143622	PTGS2	trans	brain	seeQTL
rs11143622	CCL4	trans	brain	seeQTL
rs11143622	CCL3L1	trans	brain	seeQTL
rs11143622	EGR2	trans	brain	seeQTL
rs11143622	CCL3	trans	brain	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:71360000-71370600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:71360200-71370600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:71362200-71370600	Weak transcription	Left Ventricle	heart
5	chr9:71365000-71370200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:71365000-71372800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71365400-71370600	Weak transcription	Right Ventricle	heart
8	chr9:71366000-71372800	Weak transcription	Primary B cells from cord blood	blood
9	chr9:71366200-71370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:71366400-71370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:71366400-71370400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:71366400-71370600	Weak transcription	Fetal Intestine Small	intestine
13	chr9:71366400-71373400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:71366600-71370600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:71366800-71370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:71367200-71370200	Weak transcription	Stomach Mucosa	stomach
17	chr9:71367200-71370800	Weak transcription	Brain Germinal Matrix	brain
18	chr9:71369800-71370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:71369800-71370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:71369800-71371000	Enhancers	Fetal Heart	heart
21	chr9:71370000-71370600	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:71370000-71371000	Enhancers	Fetal Intestine Large	intestine
23	chr9:71370000-71371000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:71370000-71371400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:71370000-71371400	Flanking Active TSS	HepG2	liver
26	chr9:71370000-71371400	Enhancers	K562	blood
27	chr9:71370000-71372000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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