Variant report

Variant	rs17112231
Chromosome Location	chr1:55971798-55971799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:55970974..55974627-chr1:55975213..55978660,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11206614	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13374717	0.83[ASN][1000 genomes]
rs13375461	0.83[ASN][1000 genomes]
rs1499655	0.83[ASN][1000 genomes]
rs1499656	0.83[ASN][1000 genomes]
rs17112228	1.00[ASN][1000 genomes]
rs17112243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28425503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58438899	0.83[ASN][1000 genomes]
rs60005212	0.83[ASN][1000 genomes]
rs6697229	0.83[ASN][1000 genomes]
rs72908685	0.83[ASN][1000 genomes]
rs72908697	0.83[ASN][1000 genomes]
rs7512843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7515031	1.00[ASN][1000 genomes]
rs7549751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55966400-55974000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:55969000-55972200	Enhancers	A549	lung
3	chr1:55969000-55973600	Enhancers	NHLF	lung
4	chr1:55969000-55974400	Enhancers	NHDF-Ad	bronchial
5	chr1:55969200-55972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:55969800-55972600	Weak transcription	Fetal Kidney	kidney
7	chr1:55970000-55973200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:55970000-55977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:55970400-55972600	Enhancers	Colonic Mucosa	Colon
10	chr1:55970600-55971800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:55970600-55972000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:55970600-55972000	Weak transcription	Fetal Lung	lung
13	chr1:55970600-55972000	Weak transcription	Osteobl	bone
14	chr1:55970600-55973000	Weak transcription	Ovary	ovary
15	chr1:55970600-55973200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:55970600-55978800	Weak transcription	Aorta	Aorta
17	chr1:55970800-55971800	Weak transcription	Hela-S3	cervix
18	chr1:55970800-55972400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:55970800-55975400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:55971000-55972000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:55971000-55972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:55971200-55973400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:55971400-55972000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:55971400-55973800	Enhancers	Fetal Stomach	stomach
25	chr1:55971400-55974000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:55971600-55973600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:55971600-55973600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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