Variant report

Variant	rs1014817
Chromosome Location	chr1:209523664-209523665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209522778..209525739-chr1:209526062..209527783,2	MCF-7	breast:
2	chr1:209522302..209524591-chr1:209535395..209537824,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10494922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10494924	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586524	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1395748	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17014326	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1857966	0.83[EUR][1000 genomes]
rs1876409	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2055698	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2246571	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2247066	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2254757	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2356722	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2660634	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2660638	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2660640	0.81[ASN][1000 genomes]
rs2660641	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2800929	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2843167	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661759	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6674103	0.80[AFR][1000 genomes]
rs6674309	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6685289	0.80[AFR][1000 genomes]
rs6685498	0.80[AFR][1000 genomes]
rs906347	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs906348	0.80[AFR][1000 genomes]
rs906349	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs906350	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs906351	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs906353	0.86[EUR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:209515800-209524200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:209521800-209525200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:209522000-209523800	Enhancers	Fetal Intestine Small	intestine
5	chr1:209522000-209524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:209522200-209523800	Enhancers	Osteobl	bone
7	chr1:209522200-209524000	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:209522400-209524600	Enhancers	Fetal Stomach	stomach
9	chr1:209522600-209524600	Enhancers	Fetal Heart	heart
10	chr1:209522800-209523800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:209522800-209524000	Enhancers	Fetal Lung	lung
12	chr1:209522800-209524200	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:209522800-209527600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:209522800-209529200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:209523000-209523800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:209523000-209523800	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr1:209523000-209525000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:209523000-209529000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:209523200-209524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:209523200-209526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:209523200-209527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:209523200-209527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:209523200-209527400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:209523200-209527600	Weak transcription	Fetal Kidney	kidney
25	chr1:209523200-209527800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:209523200-209528000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:209523400-209524200	Enhancers	Colon Smooth Muscle	Colon
28	chr1:209523400-209524400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:209523400-209524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:209523400-209527200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:209523400-209527400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:209523400-209527400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:209523400-209527400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:209523400-209527400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:209523400-209527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:209523400-209527400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:209523400-209527400	Weak transcription	HSMM	muscle
38	chr1:209523400-209529000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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