Variant report

Variant	rs4944058
Chromosome Location	chr11:74395650-74395651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74392571..74394133-chr11:74394228..74395891,2	K562	blood:
2	chr11:74393727..74396170-chr11:74407543..74410533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054938	Chromatin interaction
ENSG00000185162	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10793104	0.90[JPT][hapmap]
rs11236215	0.92[ASN][1000 genomes]
rs2000926	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74390400-74397800	Weak transcription	K562	blood
2	chr11:74394400-74395800	Enhancers	Spleen	Spleen
3	chr11:74395000-74395800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:74395000-74395800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:74395000-74395800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:74395000-74395800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:74395000-74395800	Enhancers	Osteobl	bone
8	chr11:74395000-74396000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:74395000-74396000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:74395000-74398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:74395000-74399600	Weak transcription	Psoas Muscle	Psoas
12	chr11:74395000-74407000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:74395200-74395800	Enhancers	A549	lung
14	chr11:74395200-74395800	Enhancers	NHLF	lung
15	chr11:74395200-74396200	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:74395200-74398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:74395200-74399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:74395200-74404600	Weak transcription	Pancreas	Pancrea
19	chr11:74395200-74406800	Weak transcription	Right Ventricle	heart
20	chr11:74395400-74395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:74395400-74395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:74395400-74395800	Enhancers	HSMM	muscle
23	chr11:74395400-74396000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:74395400-74396000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:74395400-74396200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:74395400-74397600	Weak transcription	HMEC	breast
27	chr11:74395400-74398400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:74395400-74398800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:74395400-74399000	Weak transcription	Right Atrium	heart
30	chr11:74395600-74396400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:74395600-74397600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:74395600-74397600	Weak transcription	NH-A	brain
33	chr11:74395600-74397600	Weak transcription	NHDF-Ad	bronchial
34	chr11:74395600-74397800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:74395600-74398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:74395600-74398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:74395600-74406800	Weak transcription	Lung	lung
38	chr11:74395600-74406800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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