Variant report

Variant	rs9632920
Chromosome Location	chr9:97176100-97176101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr9:97175865-97176251	K562	blood:	n/a	n/a
2	BHLHE40	chr9:97175951-97176287	K562	blood:	n/a	n/a
3	STAT5A	chr9:97175833-97176466	K562	blood:	n/a	n/a
4	GATA1	chr9:97175862-97176797	K562	blood:	n/a	n/a
5	RCOR1	chr9:97175950-97176357	K562	blood:	n/a	n/a
6	TRIM28	chr9:97175847-97176510	K562	blood:	n/a	n/a
7	TAL1	chr9:97175941-97176365	K562	blood:	n/a	n/a
8	TEAD4	chr9:97175940-97176243	K562	blood:	n/a	n/a
9	NR2F2	chr9:97175848-97176646	K562	blood:	n/a	n/a
10	ZBTB33	chr9:97176068-97176366	K562	blood:	n/a	n/a
11	JUN	chr9:97176094-97176180	K562	blood:	n/a	n/a
12	HDAC2	chr9:97176032-97176218	K562	blood:	n/a	n/a
13	GATA1	chr9:97175942-97176501	PBDE	blood:	n/a	n/a
14	POLR2A	chr9:97175929-97176226	K562	blood:	n/a	n/a
15	TRIM28	chr9:97175975-97176361	K562	blood:	n/a	n/a
16	CEBPB	chr9:97175952-97176475	K562	blood:	n/a	n/a
17	GABPA	chr9:97176044-97176222	K562	blood:	n/a	n/a
18	NR2F2	chr9:97175928-97176459	K562	blood:	n/a	n/a
19	JUND	chr9:97176010-97176292	K562	blood:	n/a	n/a
20	TBL1XR1	chr9:97175960-97176343	K562	blood:	n/a	n/a
21	POLR2A	chr9:97176013-97176353	MCF-7	breast:	n/a	n/a
22	EP300	chr9:97175948-97176361	K562	blood:	n/a	n/a
23	PML	chr9:97175948-97176250	K562	blood:	n/a	n/a
24	POLR2A	chr9:97175988-97176294	K562	blood:	n/a	n/a
25	MYC	chr9:97176001-97176265	K562	blood:	n/a	n/a
26	PML	chr9:97175944-97176269	K562	blood:	n/a	n/a
27	POLR2A	chr9:97176044-97176253	K562	blood:	n/a	n/a
28	ZMIZ1	chr9:97175969-97176340	K562	blood:	n/a	n/a
29	GATA2	chr9:97175985-97176340	K562	blood:	n/a	n/a
30	GATA2	chr9:97175938-97176544	K562	blood:	n/a	n/a
31	CEBPD	chr9:97175987-97176526	K562	blood:	n/a	n/a
32	MAX	chr9:97176002-97176219	K562	blood:	n/a	n/a
33	STAT5A	chr9:97175967-97176437	K562	blood:	n/a	n/a
34	GATA2	chr9:97175968-97176251	K562	blood:	n/a	n/a
35	MAX	chr9:97176057-97176196	K562	blood:	n/a	n/a
36	RCOR1	chr9:97175987-97176347	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
HIATL1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10115864	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10122398	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125744	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283669	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1061835	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993191	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993194	0.90[ASN][1000 genomes]
rs10993201	0.81[ASN][1000 genomes]
rs11793128	0.85[CHB][hapmap]
rs11795331	0.85[CHB][hapmap]
rs12338230	0.81[ASN][1000 genomes]
rs12338572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341403	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12343123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs1536690	1.00[CHB][hapmap]
rs16911832	0.80[ASN][1000 genomes]
rs1878875	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28704121	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28802403	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744330	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs55936246	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962682	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404236	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6479541	0.92[ASN][1000 genomes]
rs6479545	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs6479549	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7019137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7024607	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7025878	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs7027704	0.81[ASN][1000 genomes]
rs7028388	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs7030326	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7030967	0.95[ASN][1000 genomes]
rs7034153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs7036474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[ASN][1000 genomes]
rs7037298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs7040774	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7041219	0.85[ASN][1000 genomes]
rs7042434	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7042468	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7045712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[ASN][1000 genomes]
rs7046779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs722353	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7856786	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7859571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7859955	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7874441	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9299417	0.85[CHB][hapmap]

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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9632920	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs9632920	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs9632920	HIATL1	cis	multi-tissue	Pritchard
rs9632920	HIATL1	cis	Thyroid	GTEx
rs9632920	HIATL1	cis	Adipose Subcutaneous	GTEx
rs9632920	FLJ14753	cis	multi-tissue	Pritchard
rs9632920	HIATL1	cis	Nerve Tibial	GTEx
rs9632920	HIATL1	cis	Esophagus Mucosa	GTEx
rs9632920	HIATL1	cis	Lymphoblastoid	GTEx
rs9632920	HIATL1	cis	lung	GTEx
rs9632920	RP11-307E17.8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97153800-97182200	Weak transcription	NHEK	skin
2	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:97160200-97182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:97160800-97177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:97164400-97185200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:97166400-97206400	Weak transcription	HSMMtube	muscle
9	chr9:97167800-97203600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:97169800-97207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:97171800-97178800	Weak transcription	Fetal Intestine Small	intestine
12	chr9:97172000-97186000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr9:97172000-97203200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:97172000-97208400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:97172600-97204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:97172800-97182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:97173200-97184000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:97174200-97176600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:97174200-97207000	Weak transcription	Lung	lung
20	chr9:97174400-97183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:97175200-97178000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:97175600-97176200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:97175600-97176800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr9:97175600-97177000	Enhancers	K562	blood
25	chr9:97175600-97204200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:97175800-97176200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:97175800-97176200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr9:97175800-97176200	Enhancers	Primary hematopoietic stem cells	blood
29	chr9:97175800-97176200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:97175800-97176400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:97175800-97202200	Weak transcription	Dnd41	blood
32	chr9:97176000-97176200	Enhancers	Primary T cells from cord blood	blood
33	chr9:97176000-97176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:97176000-97176200	Enhancers	Left Ventricle	heart
35	chr9:97176000-97176400	Enhancers	HepG2	liver
36	chr9:97176000-97177400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr9:97176000-97183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:97176000-97203800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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