Variant report

Variant	rs6669888
Chromosome Location	chr1:92146917-92146918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17131522	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2765888	0.82[JPT][hapmap]
rs41522844	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[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	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92136000-92148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92138200-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:92138400-92148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:92138400-92148600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:92138400-92149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:92138800-92147400	Weak transcription	Placenta	Placenta
7	chr1:92139600-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:92139600-92150000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:92139600-92150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:92141800-92148600	Weak transcription	Ovary	ovary
11	chr1:92142000-92148600	Weak transcription	Pancreas	Pancrea
12	chr1:92143400-92149400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:92143600-92147600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:92143600-92148400	Weak transcription	NHLF	lung
15	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
17	chr1:92144000-92148600	Weak transcription	Right Ventricle	heart
18	chr1:92144200-92148600	Weak transcription	Left Ventricle	heart
19	chr1:92144600-92149400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:92144800-92147400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:92144800-92148400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:92145200-92148600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:92145200-92148600	Strong transcription	NHDF-Ad	bronchial
24	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:92145400-92148400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:92145600-92149400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:92145800-92147400	Weak transcription	Liver	Liver
28	chr1:92146000-92148000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:92146000-92148200	Weak transcription	HepG2	liver
30	chr1:92146200-92148000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:92146400-92147600	Weak transcription	Adipose Nuclei	Adipose
32	chr1:92146400-92148000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:92146400-92148000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:92146600-92147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:92146600-92148200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:92146600-92148600	Weak transcription	Fetal Stomach	stomach
37	chr1:92146600-92148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
39	chr1:92146800-92147800	Weak transcription	Fetal Lung	lung
40	chr1:92146800-92148000	Weak transcription	GM12878-XiMat	blood
41	chr1:92146800-92148400	Weak transcription	Fetal Intestine Large	intestine
42	chr1:92146800-92148600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:92146800-92149600	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:92146800-92149600	Weak transcription	Fetal Kidney	kidney
45	chr1:92146800-92150000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix

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