Variant report

Variant	rs10818454
Chromosome Location	chr9:100819940-100819941
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
2	chr9:100817834..100821135-chr9:100954026..100958556,6	MCF-7	breast:
3	chr9:100684278..100686693-chr9:100816052..100820620,8	K562	blood:
4	chr9:100682922..100687440-chr9:100817123..100820939,8	MCF-7	breast:
5	chr9:100819269..100820857-chr9:100828451..100830322,2	K562	blood:
6	chr9:100793900..100798932-chr9:100816820..100821233,8	MCF-7	breast:
7	chr9:100817689..100820206-chr9:101017310..101019410,4	MCF-7	breast:
8	chr9:100679913..100686278-chr9:100816188..100820459,11	K562	blood:
9	chr9:100818376..100820486-chr9:101016476..101019522,4	K562	blood:
10	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
11	chr9:100677016..100678517-chr9:100817759..100820189,2	MCF-7	breast:
12	chr9:100817802..100822153-chr9:100831375..100837110,8	MCF-7	breast:
13	chr9:100818822..100821185-chr9:101017013..101019589,2	MCF-7	breast:
14	chr9:100818120..100820344-chrX:153624608..153627230,2	MCF-7	breast:
15	chr9:100817966..100819958-chr9:100840027..100843917,3	K562	blood:
16	chr9:100819004..100820789-chr9:100854136..100855949,2	K562	blood:
17	chr9:100817775..100822653-chr9:100832609..100840095,16	MCF-7	breast:
18	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
19	chr9:100705974..100707868-chr9:100818803..100821487,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106785	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000236896	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000212521	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1058446	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10818468	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.95[ASN][1000 genomes]
rs10818472	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10984977	0.91[ASN][1000 genomes]
rs12348197	0.86[ASN][1000 genomes]
rs12349452	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs12685502	0.84[CHD][hapmap]
rs16912590	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs28489815	0.95[ASN][1000 genomes]
rs4743157	0.87[YRI][hapmap]
rs6478539	0.82[LWK][hapmap];0.91[YRI][hapmap]
rs7041811	0.80[AFR][1000 genomes]
rs7855984	0.94[ASN][1000 genomes]
rs7862535	0.80[AFR][1000 genomes]
rs7869762	1.00[YRI][hapmap]
rs7874696	0.94[ASN][1000 genomes]
rs9969738	0.95[ASN][1000 genomes]
rs9969813	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.96[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	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10818454	HIATL1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100818200-100820200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:100818200-100820200	Active TSS	A549	lung
3	chr9:100818200-100820400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:100818200-100820400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:100818200-100821000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:100818400-100820000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:100818400-100820000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:100818400-100820000	Active TSS	Aorta	Aorta
9	chr9:100818400-100820000	Active TSS	Fetal Intestine Small	intestine
10	chr9:100818400-100820000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:100818400-100820200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:100818400-100820200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr9:100818400-100820200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:100818400-100820200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:100818400-100820200	Active TSS	Right Ventricle	heart
16	chr9:100818400-100820200	Active TSS	NHDF-Ad	bronchial
17	chr9:100818400-100820400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr9:100818400-100820400	Active TSS	Stomach Mucosa	stomach
19	chr9:100818400-100820400	Active TSS	HSMM	muscle
20	chr9:100818400-100820600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:100818400-100820800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:100818400-100820800	Active TSS	Psoas Muscle	Psoas
23	chr9:100818400-100820800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr9:100818400-100820800	Active TSS	Small Intestine	intestine
25	chr9:100818400-100820800	Active TSS	NHLF	lung
26	chr9:100818400-100821200	Active TSS	Colonic Mucosa	Colon
27	chr9:100818600-100820000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:100818600-100820000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:100818600-100820000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:100818600-100820000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:100818600-100820000	Active TSS	Esophagus	oesophagus
32	chr9:100818600-100820000	Active TSS	Fetal Brain Male	brain
33	chr9:100818600-100820000	Active TSS	Gastric	stomach
34	chr9:100818600-100820200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr9:100818600-100820200	Active TSS	Pancreas	Pancrea
36	chr9:100818600-100820400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr9:100818600-100820600	Active TSS	Hela-S3	cervix
38	chr9:100818600-100820800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:100818600-100820800	Active TSS	HSMMtube	muscle
40	chr9:100818800-100820000	Active TSS	Fetal Muscle Trunk	muscle
41	chr9:100818800-100820400	Active TSS	GM12878-XiMat	blood
42	chr9:100818800-100820400	Active TSS	HepG2	liver
43	chr9:100818800-100820600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:100818800-100820600	Active TSS	K562	blood
45	chr9:100819000-100820000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:100819200-100821200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:100819400-100820000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:100819400-100820000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr9:100819400-100820000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr9:100819400-100820000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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