Variant report

Variant	rs2391271
Chromosome Location	chr1:93909887-93909888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:93909877-93910044	K562	blood:	n/a	chr1:93909937-93909950 chr1:93909941-93909951 chr1:93909937-93909951 chr1:93909937-93909950 chr1:93909931-93909951 chr1:93909938-93909951 chr1:93909935-93909949 chr1:93909939-93909950 chr1:93909937-93909950 chr1:93909938-93909952 chr1:93909936-93909950 chr1:93909938-93909952 chr1:93909937-93909950
2	POLR2A	chr1:93909798-93909921	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93908948..93911558-chr1:94050330..94052769,2	MCF-7	breast:

Variant related genes	Relation type
FNBP1L	TF binding region
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10874786	0.94[ASN][1000 genomes]
rs10874790	0.89[ASN][1000 genomes]
rs11164924	0.88[ASN][1000 genomes]
rs11164936	0.84[ASN][1000 genomes]
rs11164938	0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11164939	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs11164943	0.83[ASN][1000 genomes]
rs12042552	0.89[ASN][1000 genomes]
rs12123339	0.86[ASN][1000 genomes]
rs12133576	0.84[JPT][hapmap]
rs12135266	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12138486	0.89[JPT][hapmap]
rs12406245	0.84[JPT][hapmap]
rs12742850	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1426318	0.84[JPT][hapmap]
rs1559828	0.84[JPT][hapmap]
rs1812668	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs237438	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs35102250	0.86[ASN][1000 genomes]
rs3754186	1.00[YRI][hapmap]
rs3767964	0.84[JPT][hapmap]
rs3767967	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4847240	0.84[JPT][hapmap]
rs4847245	0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4847428	0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4847429	0.88[ASN][1000 genomes]
rs4847431	0.87[CHB][hapmap]
rs622608	0.88[JPT][hapmap]
rs637646	0.87[JPT][hapmap]
rs7525248	0.83[JPT][hapmap]
rs7543847	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7546702	0.91[ASN][1000 genomes]
rs7551016	0.91[ASN][1000 genomes]
rs8179368	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93901000-93912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93901200-93912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93901800-93912800	Weak transcription	NH-A	brain
4	chr1:93904200-93912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:93906400-93912000	Weak transcription	HepG2	liver
6	chr1:93908200-93912400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:93908200-93912400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:93908200-93912400	Weak transcription	Pancreas	Pancrea
9	chr1:93908200-93912400	Weak transcription	HMEC	breast
10	chr1:93908400-93910000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:93908400-93911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:93908400-93912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:93908400-93912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:93908600-93912000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:93908600-93912000	Weak transcription	K562	blood
16	chr1:93908600-93912200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:93908600-93912200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:93908600-93912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:93908600-93912400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:93908600-93912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:93908600-93912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:93909400-93912200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:93909400-93912200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:93909400-93912200	Weak transcription	NHEK	skin
25	chr1:93909400-93912400	Weak transcription	Stomach Mucosa	stomach
26	chr1:93909400-93912400	Weak transcription	Hela-S3	cervix
27	chr1:93909600-93912400	Weak transcription	A549	lung
28	chr1:93909600-93912600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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