Variant report

Variant	rs60622353
Chromosome Location	chr5:114756427-114756428
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	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3485451	chr5:114755754-114756514	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3485452	chr5:114755754-114756514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv2609149	chr5:114755821-114758499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv471786	chr5:114756143-114757904	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3469754	chr5:114756153-114758181	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1933109	chr5:114756302-114758101	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3471622	chr5:114756303-114757451	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3361244	chr5:114756303-114758901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3523136	chr5:114756366-114757977	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3469756	chr5:114756401-114757997	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3523138	chr5:114756405-114758000	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114749400-114756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114750000-114758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:114751200-114759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114751600-114758000	Weak transcription	Right Ventricle	heart
6	chr5:114751800-114759400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:114752000-114759400	Weak transcription	Lung	lung
8	chr5:114752600-114758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:114753400-114758600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:114754000-114761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
12	chr5:114755000-114758000	Weak transcription	Colonic Mucosa	Colon
13	chr5:114755000-114758400	Weak transcription	Pancreas	Pancrea
14	chr5:114755200-114758400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:114755200-114762200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:114755800-114758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:114755800-114758000	Weak transcription	Left Ventricle	heart
18	chr5:114756000-114758000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:114756000-114758000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:114756200-114758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:114756200-114758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:114756200-114758000	Weak transcription	Adipose Nuclei	Adipose
23	chr5:114756200-114758000	Weak transcription	Fetal Heart	heart
24	chr5:114756200-114758000	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:114756200-114758000	Weak transcription	Psoas Muscle	Psoas
26	chr5:114756200-114758000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:114756200-114758000	Weak transcription	Right Atrium	heart
28	chr5:114756200-114758000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:114756200-114758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:114756200-114758400	Weak transcription	HSMM	muscle
31	chr5:114756200-114758400	Weak transcription	HSMMtube	muscle
32	chr5:114756200-114758600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:114756200-114758600	Weak transcription	A549	lung
34	chr5:114756200-114758600	Weak transcription	NHLF	lung
35	chr5:114756200-114759200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:114756400-114757800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:114756400-114758000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:114756400-114758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:114756400-114758000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:114756400-114758000	Weak transcription	Stomach Mucosa	stomach
41	chr5:114756400-114758000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:114756400-114758000	Weak transcription	HMEC	breast
43	chr5:114756400-114758000	Weak transcription	HUVEC	blood vessel
44	chr5:114756400-114758000	Weak transcription	NHDF-Ad	bronchial
45	chr5:114756400-114758400	Weak transcription	Hela-S3	cervix
46	chr5:114756400-114758400	Weak transcription	NHEK	skin
47	chr5:114756400-114758600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:114756400-114758600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:114756400-114758600	Weak transcription	Osteobl	bone
50	chr5:114756400-114761600	Weak transcription	NH-A	brain

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