Variant report

Variant	rs12734262
Chromosome Location	chr1:113759855-113759856
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	chr1:113751528..113753690-chr1:113759429..113761422,2	MCF-7	breast:
2	chr1:113756505..113758878-chr1:113759200..113761215,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12749040	0.82[EUR][1000 genomes]
rs7555991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113757800-113760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:113757800-113760600	Weak transcription	Colonic Mucosa	Colon
3	chr1:113758000-113760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:113758000-113768400	Weak transcription	Aorta	Aorta
5	chr1:113758600-113764000	Enhancers	Fetal Intestine Large	intestine
6	chr1:113759000-113762800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:113759000-113762800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:113759200-113761000	Enhancers	Stomach Mucosa	stomach
9	chr1:113759200-113761400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:113759200-113761600	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:113759200-113762200	Enhancers	Ovary	ovary
12	chr1:113759200-113763200	Enhancers	Fetal Intestine Small	intestine
13	chr1:113759400-113760000	Enhancers	K562	blood
14	chr1:113759400-113760800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:113759400-113761200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:113759400-113761200	Enhancers	Pancreas	Pancrea
17	chr1:113759400-113761400	Enhancers	Small Intestine	intestine
18	chr1:113759400-113761800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:113759400-113762800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113759600-113760000	Enhancers	HepG2	liver
21	chr1:113759600-113760200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:113759600-113760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:113759600-113760200	Enhancers	Fetal Kidney	kidney
24	chr1:113759600-113761000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:113759800-113760000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:113759800-113760200	Weak transcription	Gastric	stomach
27	chr1:113759800-113761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:113759800-113761000	Enhancers	Hela-S3	cervix
29	chr1:113759800-113761200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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