Variant report

Variant	rs10448292
Chromosome Location	chr9:101880929-101880930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101843671..101845732-chr9:101879282..101882131,2	K562	blood:
2	chr9:101866089..101868012-chr9:101879699..101883328,3	MCF-7	breast:
3	chr9:101878794..101881758-chr9:101887608..101891012,3	K562	blood:

Variant related genes	Relation type
ENSG00000106799	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1013186	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10283455	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10739779	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10760674	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10819637	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10819638	0.86[AFR][1000 genomes]
rs10819639	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988703	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10988714	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10988723	0.89[EUR][1000 genomes]
rs12345675	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13286149	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1571590	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1973518	0.82[EUR][1000 genomes]
rs334348	0.81[EUR][1000 genomes]
rs334350	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334351	0.83[EUR][1000 genomes]
rs334353	0.86[EUR][1000 genomes]
rs334356	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334357	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334358	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334366	0.83[EUR][1000 genomes]
rs334368	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334369	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385057	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs420549	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs478061	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042852	0.87[EUR][1000 genomes]
rs789675	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs868	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[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	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101868400-101881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:101868400-101896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:101868600-101889800	Weak transcription	Ovary	ovary
4	chr9:101868600-101894400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:101869200-101881600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:101869200-101884800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:101869800-101884800	Weak transcription	A549	lung
8	chr9:101870000-101908600	Weak transcription	Brain Germinal Matrix	brain
9	chr9:101870400-101881400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:101870600-101881200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:101870600-101889800	Weak transcription	NHLF	lung
12	chr9:101872600-101881200	Weak transcription	HSMM	muscle
13	chr9:101872600-101887800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:101874600-101881000	Weak transcription	Left Ventricle	heart
15	chr9:101874600-101881600	Weak transcription	Right Atrium	heart
16	chr9:101874600-101889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:101875400-101881000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:101875600-101894600	Weak transcription	Spleen	Spleen
19	chr9:101875800-101881000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr9:101875800-101881200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:101875800-101881200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr9:101875800-101881400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr9:101876200-101881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr9:101876400-101881000	Enhancers	Primary T cells from cord blood	blood
25	chr9:101876400-101881200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr9:101876400-101881200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:101876400-101889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:101876600-101904200	Weak transcription	Liver	Liver
29	chr9:101877000-101881000	Weak transcription	Fetal Thymus	thymus
30	chr9:101877000-101884000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:101877000-101888200	Weak transcription	Osteobl	bone
32	chr9:101877000-101889400	Weak transcription	HSMMtube	muscle
33	chr9:101877200-101884400	Weak transcription	Aorta	Aorta
34	chr9:101877400-101881200	Weak transcription	Stomach Mucosa	stomach
35	chr9:101877400-101881400	Weak transcription	Small Intestine	intestine
36	chr9:101877400-101887800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:101877400-101888200	Weak transcription	Right Ventricle	heart
38	chr9:101877600-101883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:101877800-101881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:101877800-101882000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:101877800-101882000	Weak transcription	Adipose Nuclei	Adipose
42	chr9:101877800-101882600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:101878000-101883800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:101878000-101897400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:101878400-101881000	Weak transcription	K562	blood
46	chr9:101878400-101881400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:101878800-101881000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:101878800-101881000	Weak transcription	Psoas Muscle	Psoas
49	chr9:101878800-101881200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:101878800-101881400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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