Variant report

Variant	rs67248872
Chromosome Location	chr9:104329667-104329668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104211411..104211984-chr9:104329284..104330026,2	MCF-7	breast:
2	chr9:104329440..104331713-chr9:104334657..104336622,3	K562	blood:
3	chr9:104210438..104213268-chr9:104328768..104330503,2	K562	blood:
4	chr9:104221444..104221955-chr9:104329285..104330133,2	K562	blood:
5	chr9:104211304..104212259-chr9:104329523..104330518,2	K562	blood:
6	chr9:104221002..104221801-chr9:104329610..104330484,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270982	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10512282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11789610	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11790230	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11790317	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11790832	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11791337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793752	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11793946	0.84[AFR][1000 genomes]
rs1323432	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16920443	0.86[EUR][1000 genomes]
rs16920462	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17188758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57596144	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59782949	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61051202	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61396182	0.86[EUR][1000 genomes]
rs61685305	0.86[EUR][1000 genomes]
rs62575808	0.81[EUR][1000 genomes]
rs62575815	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575836	0.84[AFR][1000 genomes]
rs62575837	0.84[AFR][1000 genomes]
rs62575839	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575842	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575844	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62575845	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62575847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62575848	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62575849	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575850	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575851	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575852	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62577397	0.81[EUR][1000 genomes]
rs66786600	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72745305	0.84[AFR][1000 genomes]
rs7859863	0.88[AFR][1000 genomes]

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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv893627	chr9:104268342-104334333	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers 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	5 gene(s)	inside rSNPs	diseases
5	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104296800-104334200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:104296800-104337400	Weak transcription	Stomach Mucosa	stomach
3	chr9:104297600-104330400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:104297600-104330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:104297800-104332600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:104297800-104333000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr9:104298000-104332800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr9:104298200-104333200	Strong transcription	Adipose Nuclei	Adipose
9	chr9:104298400-104333200	Strong transcription	Liver	Liver
10	chr9:104298400-104333400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr9:104299000-104333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:104299200-104330400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:104301600-104333400	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:104301800-104331800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:104302200-104333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:104311800-104332400	Strong transcription	Fetal Intestine Large	intestine
17	chr9:104313200-104335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:104315000-104334600	Weak transcription	Small Intestine	intestine
19	chr9:104318200-104333400	Strong transcription	Primary B cells from cord blood	blood
20	chr9:104319400-104330600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr9:104319600-104330800	Strong transcription	Brain Anterior Caudate	brain
22	chr9:104319600-104330800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:104319600-104330800	Strong transcription	Fetal Muscle Leg	muscle
24	chr9:104319600-104333000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:104320600-104332600	Weak transcription	HMEC	breast
26	chr9:104320600-104333200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:104320800-104331600	Weak transcription	Fetal Heart	heart
28	chr9:104321800-104331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:104322200-104330600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:104322200-104332200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:104322600-104330600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:104322600-104333000	Strong transcription	A549	lung
33	chr9:104323000-104330400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:104323000-104332800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:104323200-104330800	Strong transcription	Fetal Brain Female	brain
36	chr9:104323600-104334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:104323800-104329800	Strong transcription	Primary T cells from cord blood	blood
38	chr9:104324000-104332800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr9:104324200-104332800	Strong transcription	Brain Cingulate Gyrus	brain
40	chr9:104324400-104330200	Strong transcription	Colonic Mucosa	Colon
41	chr9:104324800-104329800	Weak transcription	Hela-S3	cervix
42	chr9:104324800-104334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:104324800-104334800	Weak transcription	Right Ventricle	heart
44	chr9:104325000-104330400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:104325000-104331400	Weak transcription	K562	blood
46	chr9:104325000-104333200	Weak transcription	NHDF-Ad	bronchial
47	chr9:104325000-104334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:104325200-104331200	Weak transcription	Fetal Brain Male	brain
49	chr9:104325200-104334200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:104325200-104344400	Weak transcription	NHLF	lung

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