Variant report

Variant	rs10839557
Chromosome Location	chr11:6379270-6379271
allele	C/G
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	CTCF	chr11:6379240-6379390	HAc	cerebellar:	n/a	n/a
2	MAZ	chr11:6378384-6379432	IMR90	lung:	n/a	chr11:6379234-6379244 chr11:6378618-6378627

Variant related genes	Relation type
ENSG00000254443	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10769691	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10839556	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10839558	0.81[ASN][1000 genomes]
rs10839560	0.81[ASN][1000 genomes]
rs11040871	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11040876	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12221724	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087311	0.87[EUR][1000 genomes]
rs2634195	0.84[ASN][1000 genomes]
rs2682086	0.84[ASN][1000 genomes]
rs2682106	0.98[ASN][1000 genomes]
rs2723657	0.84[ASN][1000 genomes]
rs7112142	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112502	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046738	chr11:6287877-6393438	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6355000-6384200	Weak transcription	Right Ventricle	heart
2	chr11:6372200-6383800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:6375000-6384000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:6375200-6381000	Weak transcription	Fetal Heart	heart
5	chr11:6375200-6383400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:6375200-6383800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:6375200-6386200	Weak transcription	Stomach Mucosa	stomach
8	chr11:6375800-6379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:6376400-6379400	Weak transcription	Fetal Kidney	kidney
10	chr11:6377400-6379400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:6377800-6379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:6377800-6379400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:6377800-6379400	Enhancers	Rectal Smooth Muscle	rectum
14	chr11:6377800-6379400	Enhancers	HSMMtube	muscle
15	chr11:6377800-6379600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:6377800-6379600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:6377800-6379600	Enhancers	NHLF	lung
18	chr11:6378000-6379400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:6378000-6379400	Weak transcription	Fetal Stomach	stomach
20	chr11:6378000-6379600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:6378200-6379400	Enhancers	K562	blood
22	chr11:6378400-6379600	Weak transcription	Liver	Liver
23	chr11:6378400-6383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:6378600-6379400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:6378600-6379400	Enhancers	NH-A	brain
26	chr11:6378600-6379600	Enhancers	NHDF-Ad	bronchial
27	chr11:6378600-6379600	Enhancers	Osteobl	bone
28	chr11:6378600-6380600	Weak transcription	Fetal Brain Male	brain
29	chr11:6378600-6383600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:6378600-6384000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:6378800-6379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:6378800-6381400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:6378800-6383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:6378800-6383600	Weak transcription	Aorta	Aorta
35	chr11:6378800-6383600	Weak transcription	Pancreas	Pancrea
36	chr11:6378800-6383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:6378800-6383800	Weak transcription	NHEK	skin
38	chr11:6379000-6379400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:6379000-6383800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:6379200-6379400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:6379200-6379600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:6379200-6383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:6379200-6383800	Weak transcription	HMEC	breast
44	chr11:6379200-6384000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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