Variant report

Variant	rs2994433
Chromosome Location	chr1:85087313-85087314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85086553..85087333-chr1:85218935..85219853,3	MCF-7	breast:
2	chr1:85085152..85088621-chr1:85102581..85105385,3	K562	blood:
3	chr1:84606589..84609383-chr1:85086485..85089260,2	MCF-7	breast:
4	chr1:85038472..85040331-chr1:85083677..85087781,3	K562	blood:
5	chr1:85087266..85090257-chr1:85091189..85093358,2	K562	blood:
6	chr1:84969683..84973064-chr1:85084003..85088136,5	K562	blood:
7	chr1:85038631..85041223-chr1:85086686..85088297,2	K562	blood:
8	chr1:85083903..85087925-chr1:85089048..85091034,3	K562	blood:
9	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000232622	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1107982	0.96[ASN][1000 genomes]
rs17112884	0.85[ASN][1000 genomes]
rs2030206	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs2943666	0.85[ASN][1000 genomes]
rs2945133	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs2945134	0.85[ASN][1000 genomes]
rs2994932	0.83[ASN][1000 genomes]
rs2994933	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3319334	chr1:85085389-85087937	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3319335	chr1:85085389-85087937	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85086800-85087400	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:85086800-85087400	Enhancers	K562	blood
3	chr1:85086800-85087600	Weak transcription	NHLF	lung
4	chr1:85086800-85088000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85086800-85091200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:85086800-85098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85086800-85100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:85087000-85087400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:85087000-85087400	Enhancers	Fetal Intestine Small	intestine
10	chr1:85087000-85087400	Enhancers	Pancreas	Pancrea
11	chr1:85087000-85089200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:85087000-85089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:85087000-85147400	Weak transcription	Gastric	stomach
14	chr1:85087200-85087400	Enhancers	Fetal Heart	heart
15	chr1:85087200-85087600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:85087200-85087600	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr1:85087200-85088000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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