Variant report

Variant	rs913912
Chromosome Location	chr9:100341038-100341039
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	chr9:100333571..100335590-chr9:100340872..100342993,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10983030	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1800975	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs2026132	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2149986	0.91[ASN][1000 genomes]
rs2480721	0.85[EUR][1000 genomes]
rs2773347	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2773351	0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2773355	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2805775	0.88[ASN][1000 genomes]
rs2805779	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2805791	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2805801	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2805803	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2805806	0.92[ASN][1000 genomes]
rs2805837	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs2805839	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs2808668	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2808672	0.82[GIH][hapmap]
rs7853179	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs958346	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]

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	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs913912	HIATL1	cis	cerebellum	SCAN
rs913912	ZNF484	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:100333600-100361800	Weak transcription	Gastric	stomach
4	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle
7	chr9:100334600-100353600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:100334800-100355600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:100335000-100341800	Weak transcription	Fetal Heart	heart
10	chr9:100335600-100356600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:100336200-100349200	Weak transcription	K562	blood
12	chr9:100336200-100356200	Weak transcription	Aorta	Aorta
13	chr9:100336200-100360000	Weak transcription	Brain Substantia Nigra	brain
14	chr9:100337800-100341400	Weak transcription	Fetal Brain Female	brain
15	chr9:100338200-100356200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:100338200-100356800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:100338400-100341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr9:100338400-100353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:100338400-100356000	Weak transcription	Brain Anterior Caudate	brain
20	chr9:100338400-100361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:100338600-100353200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:100338600-100360800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:100340400-100342400	Enhancers	Adipose Nuclei	Adipose
24	chr9:100340600-100342400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:100340800-100341200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:100340800-100341200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:100340800-100341400	Enhancers	Brain Hippocampus Middle	brain
28	chr9:100340800-100342200	Enhancers	Left Ventricle	heart
29	chr9:100340800-100342200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:100340800-100342400	Enhancers	Psoas Muscle	Psoas
31	chr9:100340800-100342400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr9:100341000-100341200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:100341000-100341600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:100341000-100341600	Enhancers	Ovary	ovary
35	chr9:100341000-100341600	Enhancers	Right Atrium	heart
36	chr9:100341000-100342400	Enhancers	Right Ventricle	heart

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