Variant report

Variant	rs11165243
Chromosome Location	chr1:92144830-92144831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92143375..92146604-chr1:92147900..92150729,3	K562	blood:
2	chr1:92139645..92141947-chr1:92143774..92146003,3	K562	blood:
3	chr1:92143583..92146461-chr1:92147900..92150725,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10782970	1.00[EUR][1000 genomes]
rs11165144	1.00[EUR][1000 genomes]
rs11165480	1.00[EUR][1000 genomes]
rs11165483	1.00[EUR][1000 genomes]
rs11466564	1.00[EUR][1000 genomes]
rs12057280	1.00[EUR][1000 genomes]
rs12075049	1.00[EUR][1000 genomes]
rs12084293	1.00[EUR][1000 genomes]
rs12091118	1.00[EUR][1000 genomes]
rs12095721	1.00[EUR][1000 genomes]
rs12096228	1.00[EUR][1000 genomes]
rs13447567	1.00[EUR][1000 genomes]
rs13447569	1.00[EUR][1000 genomes]
rs1508591	1.00[EUR][1000 genomes]
rs17131494	1.00[EUR][1000 genomes]
rs17131517	1.00[EUR][1000 genomes]
rs17880248	1.00[EUR][1000 genomes]
rs17881865	1.00[EUR][1000 genomes]
rs17884660	1.00[EUR][1000 genomes]
rs2799528	1.00[EUR][1000 genomes]
rs477003	1.00[EUR][1000 genomes]
rs539048	1.00[EUR][1000 genomes]
rs544077	1.00[EUR][1000 genomes]
rs546872	1.00[EUR][1000 genomes]
rs57491683	1.00[EUR][1000 genomes]
rs6669300	1.00[EUR][1000 genomes]
rs72967166	1.00[EUR][1000 genomes]
rs7520738	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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92134200-92145200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:92136000-92148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:92138200-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:92138400-92145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:92138400-92148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:92138400-92148600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:92138400-92149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:92138800-92147400	Weak transcription	Placenta	Placenta
9	chr1:92139600-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:92139600-92150000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:92139600-92150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:92140000-92146000	Weak transcription	Fetal Lung	lung
13	chr1:92140200-92145200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:92140200-92145200	Weak transcription	NHDF-Ad	bronchial
15	chr1:92141800-92148600	Weak transcription	Ovary	ovary
16	chr1:92142000-92148600	Weak transcription	Pancreas	Pancrea
17	chr1:92143400-92149400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:92143600-92147600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:92143600-92148400	Weak transcription	NHLF	lung
20	chr1:92143800-92145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
23	chr1:92144000-92148600	Weak transcription	Right Ventricle	heart
24	chr1:92144200-92148600	Weak transcription	Left Ventricle	heart
25	chr1:92144600-92149400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:92144800-92145000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr1:92144800-92145200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:92144800-92145200	Enhancers	Fetal Kidney	kidney
29	chr1:92144800-92145800	Genic enhancers	Fetal Stomach	stomach
30	chr1:92144800-92146800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:92144800-92147400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:92144800-92148400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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