Variant report

Variant	rs11886110
Chromosome Location	chr2:39610516-39610517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39608927..39611189-chr2:39667171..39668738,2	K562	blood:
2	chr2:39608115..39611189-chr2:39665899..39668671,3	K562	blood:
3	chr2:39609687..39611705-chr2:39616277..39618886,3	K562	blood:
4	chr2:39609764..39613069-chr2:39616003..39618259,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10490305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886434	0.84[AFR][1000 genomes]
rs11895366	0.89[AFR][1000 genomes]
rs11898704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11902188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17023620	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038958	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770661	0.91[ASN][1000 genomes]
rs55797011	0.82[ASN][1000 genomes]
rs55961227	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56361338	0.91[ASN][1000 genomes]
rs56850142	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56928728	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57084694	0.82[AFR][1000 genomes]
rs58005382	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58824151	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59459399	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59707152	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59896787	0.82[AFR][1000 genomes]
rs60394429	0.92[AFR][1000 genomes]
rs61219633	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6544225	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6712399	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6718000	0.82[ASN][1000 genomes]
rs6723987	0.95[AFR][1000 genomes]
rs6725784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6727395	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6751506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73923836	0.91[ASN][1000 genomes]
rs73923844	0.87[AFR][1000 genomes]
rs73923847	0.82[ASN][1000 genomes]
rs73923848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73923887	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73923888	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73923889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923895	0.98[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73924011	0.81[AFR][1000 genomes]
rs73924013	0.81[AFR][1000 genomes]
rs73924016	0.82[AFR][1000 genomes]
rs73924810	0.91[ASN][1000 genomes]
rs73924815	0.91[ASN][1000 genomes]
rs73924816	0.91[ASN][1000 genomes]
rs73924817	0.91[ASN][1000 genomes]
rs73924818	0.91[ASN][1000 genomes]
rs7565210	0.89[AFR][1000 genomes]
rs7591563	0.93[AFR][1000 genomes]
rs7595047	0.91[ASN][1000 genomes]
rs7599017	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
5	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
6	chr2:39603400-39612000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:39603400-39613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:39604600-39610800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:39605600-39612400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:39605800-39612200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:39606400-39614000	Weak transcription	Right Ventricle	heart
14	chr2:39606600-39611800	Enhancers	HepG2	liver
15	chr2:39606800-39610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:39607200-39614600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
19	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:39607800-39610600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:39607800-39610800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:39608000-39612000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:39608000-39612000	Weak transcription	NHEK	skin
25	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
26	chr2:39608200-39613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:39608400-39612000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:39608400-39612200	Weak transcription	HMEC	breast
29	chr2:39608400-39612200	Weak transcription	HUVEC	blood vessel
30	chr2:39608400-39614600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:39609200-39611000	Weak transcription	Left Ventricle	heart
35	chr2:39609200-39611000	Weak transcription	Ovary	ovary
36	chr2:39609200-39612000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:39609200-39612400	Weak transcription	HSMMtube	muscle
38	chr2:39609200-39614000	Weak transcription	Pancreas	Pancrea
39	chr2:39609200-39614600	Weak transcription	Liver	Liver
40	chr2:39609200-39615200	Weak transcription	Gastric	stomach
41	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
42	chr2:39609200-39621600	Weak transcription	Lung	lung
43	chr2:39609400-39613200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:39609400-39615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
46	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:39609400-39621600	Weak transcription	HSMM	muscle
48	chr2:39609600-39612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:39609600-39614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:39609600-39614600	Weak transcription	Rectal Smooth Muscle	rectum

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