Variant report

Variant	rs12418021
Chromosome Location	chr11:120103932-120103933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120085723..120087273-chr11:120102230..120104353,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1349688	1.00[CHB][hapmap]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120097200-120106200	Weak transcription	Esophagus	oesophagus
3	chr11:120098600-120104400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:120098600-120105400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:120099800-120110800	Weak transcription	Ovary	ovary
6	chr11:120100200-120104200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:120100200-120104200	Weak transcription	Pancreas	Pancrea
8	chr11:120100400-120104400	Weak transcription	Colonic Mucosa	Colon
9	chr11:120100400-120104800	Weak transcription	Spleen	Spleen
10	chr11:120100400-120106200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:120100600-120104200	Strong transcription	Fetal Stomach	stomach
12	chr11:120100600-120105800	Strong transcription	Fetal Intestine Small	intestine
13	chr11:120101200-120105000	Weak transcription	Fetal Kidney	kidney
14	chr11:120101200-120105400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:120101600-120111000	Weak transcription	Liver	Liver
16	chr11:120102000-120104000	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:120102000-120108200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:120102200-120104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:120102400-120104800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:120103000-120105800	Weak transcription	HMEC	breast
21	chr11:120103200-120104800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:120103800-120105800	Enhancers	Rectal Mucosa Donor 31	rectum

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