Variant report

Variant	rs1426392
Chromosome Location	chr11:102013412-102013413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102001630..102004252-chr11:102012228..102014572,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10750632	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10750633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750634	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791564	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791565	0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895258	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10895259	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10895261	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895262	0.82[ASN][1000 genomes]
rs10895263	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10895264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895265	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895266	0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11225134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11225135	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11225139	0.80[ASN][1000 genomes]
rs11225141	0.83[EUR][1000 genomes]
rs11225146	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225147	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225149	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225151	0.81[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11603468	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11606471	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607135	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12223094	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12790160	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796162	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1365330	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1426394	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1834595	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1834596	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893497	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1895917	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1942680	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1942688	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942689	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942690	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942691	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2003357	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2019070	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3890538	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4329661	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4442513	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754833	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60304309	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61538959	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6590949	0.87[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7108698	0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108820	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7117239	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7120363	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7123862	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7124280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7126535	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126944	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7127597	0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7130772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7483889	0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924449	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927957	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7928547	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938172	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs948737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787890	0.84[EUR][1000 genomes];0.81[ASN][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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
2	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:101991600-102015200	Weak transcription	Fetal Kidney	kidney
4	chr11:101991600-102015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:101998800-102014400	Weak transcription	Liver	Liver
8	chr11:101998800-102014600	Weak transcription	Small Intestine	intestine
9	chr11:101998800-102014800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:102000800-102034000	Weak transcription	Lung	lung
11	chr11:102004600-102015600	Weak transcription	Ovary	ovary
12	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:102006200-102014600	Weak transcription	Fetal Stomach	stomach
14	chr11:102006400-102015400	Weak transcription	Right Atrium	heart
15	chr11:102006400-102015600	Weak transcription	Right Ventricle	heart
16	chr11:102009200-102015200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:102009200-102015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:102009200-102015600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:102010000-102015600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:102010000-102015600	Weak transcription	HUVEC	blood vessel
21	chr11:102010200-102015200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:102010400-102014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:102010400-102014600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:102010400-102014600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:102010400-102014600	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:102010400-102014800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:102010400-102015000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:102010400-102015600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:102010400-102015600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:102010400-102015600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:102010400-102020800	Weak transcription	Left Ventricle	heart
33	chr11:102010400-102023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:102010600-102013800	Enhancers	NHDF-Ad	bronchial
36	chr11:102010600-102014200	Weak transcription	Stomach Mucosa	stomach
37	chr11:102010600-102014400	Weak transcription	A549	lung
38	chr11:102010600-102015200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:102010600-102015400	Weak transcription	Fetal Intestine Large	intestine
40	chr11:102010600-102015600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:102010800-102013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:102010800-102014200	Weak transcription	NHEK	skin
43	chr11:102010800-102015200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:102010800-102015400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:102011000-102015600	Weak transcription	NH-A	brain
46	chr11:102011200-102014400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:102011400-102014000	Enhancers	Fetal Lung	lung
48	chr11:102011400-102016000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:102011600-102013600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:102011800-102019000	Enhancers	Fetal Heart	heart

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