Variant report

Variant	rs2255944
Chromosome Location	chr1:120332837-120332838
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
2	chr1:120324655..120326913-chr1:120332769..120335271,3	MCF-7	breast:
3	chr1:120332710..120334961-chr1:120345057..120347532,2	MCF-7	breast:
4	chr1:120332675..120334914-chr1:120341498..120343117,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1163541	0.98[EUR][1000 genomes]
rs1163547	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1163548	0.99[EUR][1000 genomes]
rs1163549	0.99[EUR][1000 genomes]
rs1660606	0.93[EUR][1000 genomes]
rs1992377	0.89[EUR][1000 genomes]
rs2582781	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582783	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582788	0.99[EUR][1000 genomes]
rs2582796	0.95[EUR][1000 genomes]
rs2793824	0.95[EUR][1000 genomes]
rs2793825	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120324800-120335000	Enhancers	Fetal Intestine Large	intestine
2	chr1:120324800-120335000	Enhancers	Fetal Intestine Small	intestine
3	chr1:120325600-120333600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:120327200-120336400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:120327400-120337000	Weak transcription	Colonic Mucosa	Colon
6	chr1:120328400-120336800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:120328600-120333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:120328800-120333200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:120328800-120333600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:120329600-120333600	Weak transcription	Gastric	stomach
11	chr1:120330000-120334400	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:120330200-120333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:120330200-120336000	Weak transcription	Esophagus	oesophagus
14	chr1:120330600-120333200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:120330600-120333600	Weak transcription	Pancreas	Pancrea
16	chr1:120330600-120336000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:120330800-120333200	Weak transcription	Placenta	Placenta
18	chr1:120330800-120335800	Weak transcription	Fetal Lung	lung
19	chr1:120331000-120335800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:120331000-120337800	Weak transcription	HMEC	breast
21	chr1:120331200-120333000	Weak transcription	Fetal Kidney	kidney
22	chr1:120331200-120333200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:120331200-120336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:120331600-120333800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:120332600-120333000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:120332600-120334600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:120332800-120333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:120332800-120334200	Flanking Active TSS	Liver	Liver
29	chr1:120332800-120334200	Enhancers	Small Intestine	intestine
30	chr1:120332800-120334400	Enhancers	Stomach Mucosa	stomach
31	chr1:120332800-120334800	Enhancers	HepG2	liver
32	chr1:120332800-120341600	Enhancers	Fetal Stomach	stomach

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