Variant report

Variant	rs11144993
Chromosome Location	chr9:79267006-79267007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10119518	1.00[EUR][1000 genomes]
rs10121652	1.00[EUR][1000 genomes]
rs10123325	1.00[EUR][1000 genomes]
rs10512063	1.00[TSI][hapmap]
rs10521473	1.00[EUR][1000 genomes]
rs11144991	1.00[EUR][1000 genomes]
rs12336287	1.00[EUR][1000 genomes]
rs12337785	1.00[EUR][1000 genomes]
rs12340696	1.00[EUR][1000 genomes]
rs12342460	1.00[EUR][1000 genomes]
rs12345816	1.00[EUR][1000 genomes]
rs12351220	1.00[EUR][1000 genomes]
rs1346041	1.00[EUR][1000 genomes]
rs17062959	1.00[EUR][1000 genomes]
rs17062964	1.00[EUR][1000 genomes]
rs17062967	1.00[EUR][1000 genomes]
rs17081141	1.00[EUR][1000 genomes]
rs17081142	1.00[EUR][1000 genomes]
rs2015354	1.00[EUR][1000 genomes]
rs28470485	1.00[EUR][1000 genomes]
rs28576740	1.00[EUR][1000 genomes]
rs28587388	1.00[EUR][1000 genomes]
rs28635278	1.00[EUR][1000 genomes]
rs55725331	1.00[EUR][1000 genomes]
rs55825540	1.00[EUR][1000 genomes]
rs56026497	1.00[EUR][1000 genomes]
rs56143215	1.00[EUR][1000 genomes]
rs56145880	1.00[EUR][1000 genomes]
rs56679509	1.00[EUR][1000 genomes]
rs57802610	1.00[EUR][1000 genomes]
rs597285	1.00[JPT][hapmap]
rs60467484	1.00[EUR][1000 genomes]
rs6560530	1.00[EUR][1000 genomes]
rs7044442	1.00[EUR][1000 genomes]
rs73449878	1.00[EUR][1000 genomes]
rs73449890	1.00[EUR][1000 genomes]
rs73449896	1.00[EUR][1000 genomes]
rs73452104	1.00[EUR][1000 genomes]
rs73454158	1.00[EUR][1000 genomes]
rs73650254	1.00[EUR][1000 genomes]
rs73650286	1.00[EUR][1000 genomes]
rs73650287	1.00[EUR][1000 genomes]
rs73650987	1.00[EUR][1000 genomes]
rs73650989	1.00[EUR][1000 genomes]
rs73650990	1.00[EUR][1000 genomes]
rs73650991	1.00[EUR][1000 genomes]
rs73650992	1.00[EUR][1000 genomes]
rs73650994	1.00[EUR][1000 genomes]
rs73650996	1.00[EUR][1000 genomes]
rs73650997	1.00[EUR][1000 genomes]
rs73650998	1.00[EUR][1000 genomes]
rs73650999	1.00[EUR][1000 genomes]
rs73651000	1.00[EUR][1000 genomes]
rs73651001	1.00[EUR][1000 genomes]
rs7848842	1.00[EUR][1000 genomes]
rs7850310	1.00[EUR][1000 genomes]
rs7855826	1.00[EUR][1000 genomes]
rs7867080	1.00[EUR][1000 genomes]
rs7875591	1.00[EUR][1000 genomes]
rs867646	1.00[EUR][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79252600-79278000	Weak transcription	Gastric	stomach
2	chr9:79258000-79270000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:79258200-79267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:79259000-79269200	Weak transcription	Brain Substantia Nigra	brain
5	chr9:79259000-79278000	Weak transcription	Spleen	Spleen
6	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:79263600-79268600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:79263600-79268600	Weak transcription	Aorta	Aorta
9	chr9:79263600-79272800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:79263600-79282200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:79264000-79267200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:79264800-79267200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:79265200-79267600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:79265400-79267400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr9:79265400-79267400	Enhancers	Fetal Intestine Large	intestine
16	chr9:79265400-79267600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:79265400-79267600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:79265400-79267600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:79265400-79267800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:79265400-79268200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:79265400-79268600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:79265400-79269200	Genic enhancers	HSMM	muscle
23	chr9:79265400-79270800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:79265600-79267400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:79265600-79267400	Enhancers	Small Intestine	intestine
26	chr9:79265600-79267600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:79265600-79267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:79265600-79268000	Enhancers	Colon Smooth Muscle	Colon
29	chr9:79265600-79268200	Enhancers	GM12878-XiMat	blood
30	chr9:79265600-79268400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr9:79265600-79269600	Weak transcription	Brain Angular Gyrus	brain
32	chr9:79265600-79270600	Enhancers	Fetal Thymus	thymus
33	chr9:79265600-79270600	Enhancers	NHLF	lung
34	chr9:79265600-79274000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:79265800-79267200	Enhancers	Liver	Liver
36	chr9:79265800-79268800	Weak transcription	Fetal Heart	heart
37	chr9:79266000-79267200	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr9:79266000-79267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:79266000-79268200	Weak transcription	NH-A	brain
40	chr9:79266000-79268400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:79266000-79268800	Weak transcription	Stomach Mucosa	stomach
42	chr9:79266000-79278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:79266200-79267600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:79266200-79268600	Weak transcription	Fetal Kidney	kidney
45	chr9:79266400-79267400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:79266400-79267400	Enhancers	Fetal Intestine Small	intestine
47	chr9:79266400-79267800	Weak transcription	HMEC	breast
48	chr9:79266400-79268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:79266400-79268400	Weak transcription	NHDF-Ad	bronchial
50	chr9:79266400-79268800	Weak transcription	Fetal Muscle Leg	muscle

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