Variant report

Variant	rs1754437
Chromosome Location	chr9:97366721-97366722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97366331..97367935-chr9:97380870..97383175,2	MCF-7	breast:
2	chr9:97363139..97364825-chr9:97366128..97368386,2	K562	blood:
3	chr9:97365733..97367940-chr9:97370951..97372481,2	MCF-7	breast:
4	chr9:97314619..97316650-chr9:97365797..97368541,2	K562	blood:
5	chr9:97365760..97367307-chr9:97368033..97370545,2	MCF-7	breast:
6	chr9:97343362..97346038-chr9:97364705..97367422,2	MCF-7	breast:
7	chr9:97364234..97367313-chr9:97400419..97403811,3	MCF-7	breast:
8	chr9:97315259..97318533-chr9:97363918..97367292,6	MCF-7	breast:
9	chr9:97315606..97319704-chr9:97363491..97367544,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1754436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2772021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786777	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2993972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35600708	0.88[ASN][1000 genomes]
rs4526415	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55983816	0.81[ASN][1000 genomes]
rs56144694	0.88[ASN][1000 genomes]
rs56385954	0.94[ASN][1000 genomes]
rs601389	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618272	0.87[EUR][1000 genomes]
rs7851565	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466436	chr9:97343620-97369149	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv614917	chr9:97343620-97369149	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1754437	HIATL1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97347600-97374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:97351800-97369200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:97358000-97368800	Weak transcription	Gastric	stomach
4	chr9:97362600-97367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:97364400-97382800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:97364800-97382800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr9:97365000-97375400	Genic enhancers	Fetal Intestine Small	intestine
8	chr9:97365000-97376200	Genic enhancers	Liver	Liver
9	chr9:97365200-97367000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:97365200-97369200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:97365400-97366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:97365400-97366800	Enhancers	Fetal Intestine Large	intestine
13	chr9:97365400-97368800	Enhancers	Colonic Mucosa	Colon
14	chr9:97365600-97366800	Enhancers	Fetal Stomach	stomach
15	chr9:97365600-97367200	Enhancers	Fetal Muscle Leg	muscle
16	chr9:97365800-97368200	Weak transcription	Lung	lung
17	chr9:97365800-97370400	Weak transcription	Pancreas	Pancrea
18	chr9:97365800-97373800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:97366000-97366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:97366000-97367200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:97366000-97367400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:97366000-97369200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:97366000-97369200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:97366000-97369600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:97366000-97369600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:97366200-97366800	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:97366200-97366800	Enhancers	Fetal Kidney	kidney
28	chr9:97366200-97367000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:97366200-97367400	Enhancers	HepG2	liver
30	chr9:97366200-97369800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:97366200-97369800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:97366200-97371600	Weak transcription	Fetal Heart	heart
33	chr9:97366400-97367000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:97366400-97367200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:97366400-97368400	Weak transcription	Stomach Mucosa	stomach
36	chr9:97366400-97369400	Weak transcription	Fetal Lung	lung
37	chr9:97366600-97370400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:97366600-97384400	Weak transcription	Small Intestine	intestine

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