Variant report

Variant	rs11138419
Chromosome Location	chr9:72008194-72008195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72000502..72003339-chr9:72007156..72008716,2	K562	blood:
2	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
3	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:

Variant related genes	Relation type
ENSG00000135063	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10780360	1.00[YRI][hapmap]
rs10867403	0.87[YRI][hapmap]
rs11138090	1.00[EUR][1000 genomes]
rs11138097	1.00[EUR][1000 genomes]
rs11138118	1.00[EUR][1000 genomes]
rs11138262	1.00[EUR][1000 genomes]
rs11138263	1.00[EUR][1000 genomes]
rs11138400	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788742	0.85[YRI][hapmap]
rs12341853	1.00[EUR][1000 genomes]
rs12343852	1.00[EUR][1000 genomes]
rs12344522	0.85[YRI][hapmap]
rs1331979	1.00[YRI][hapmap]
rs13440045	1.00[EUR][1000 genomes]
rs1890633	1.00[EUR][1000 genomes]
rs2244720	1.00[YRI][hapmap]
rs41277901	1.00[EUR][1000 genomes]
rs45534236	1.00[EUR][1000 genomes]
rs6559513	0.88[YRI][hapmap]
rs7018704	1.00[EUR][1000 genomes]
rs7019551	0.88[YRI][hapmap]
rs73450886	1.00[EUR][1000 genomes]
rs73450889	1.00[EUR][1000 genomes]
rs73450890	1.00[EUR][1000 genomes]
rs73452911	1.00[EUR][1000 genomes]
rs73452916	1.00[EUR][1000 genomes]
rs73452956	1.00[EUR][1000 genomes]
rs7357615	1.00[YRI][hapmap]
rs7857529	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv893431	chr9:72003036-72048098	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
4	chr9:71997400-72009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:72002800-72012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:72003400-72008400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:72003400-72010000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:72003400-72012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:72003400-72012400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:72003600-72026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:72006000-72008200	Enhancers	Colon Smooth Muscle	Colon
12	chr9:72006200-72008200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr9:72006200-72008400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr9:72006200-72013400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:72006400-72008200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:72006400-72008200	Enhancers	Right Atrium	heart
17	chr9:72006400-72008400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr9:72006400-72008600	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:72006400-72009000	Enhancers	Left Ventricle	heart
20	chr9:72006400-72009000	Enhancers	Psoas Muscle	Psoas
21	chr9:72006400-72010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:72006400-72010000	Enhancers	Right Ventricle	heart
23	chr9:72006400-72010400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:72006600-72008200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr9:72006800-72008200	Enhancers	Spleen	Spleen
26	chr9:72006800-72010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:72007000-72012800	Weak transcription	Esophagus	oesophagus
28	chr9:72007200-72010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:72007400-72008600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:72007400-72010600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:72007400-72012200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:72007600-72008400	Genic enhancers	Gastric	stomach
33	chr9:72007600-72010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:72007600-72012200	Weak transcription	Adipose Nuclei	Adipose
35	chr9:72007600-72026800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:72007800-72008400	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr9:72007800-72008600	Strong transcription	Ovary	ovary
38	chr9:72007800-72009400	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:72007800-72009800	Weak transcription	Brain Substantia Nigra	brain
40	chr9:72007800-72011800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:72007800-72012400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr9:72008000-72008200	Weak transcription	Brain Angular Gyrus	brain
43	chr9:72008000-72008200	Enhancers	Brain Anterior Caudate	brain
44	chr9:72008000-72008600	ZNF genes & repeats	Fetal Stomach	stomach
45	chr9:72008000-72008800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:72008000-72009000	Flanking Active TSS	Fetal Heart	heart
47	chr9:72008000-72009800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:72008000-72012600	Weak transcription	HSMMtube	muscle

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