Variant report

Variant	rs562136685
Chromosome Location	chr5:177053653-177053654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak 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	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv964980	chr5:177052123-177057222	Weak transcription Strong transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:177035000-177054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:177037000-177055200	Weak transcription	NHLF	lung
4	chr5:177038600-177054400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:177041600-177054400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:177044400-177061800	Weak transcription	Small Intestine	intestine
7	chr5:177045000-177054200	Weak transcription	GM12878-XiMat	blood
8	chr5:177046400-177055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:177046400-177058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:177046600-177054400	Weak transcription	Right Ventricle	heart
11	chr5:177046600-177055000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
15	chr5:177046800-177054000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:177046800-177054200	Weak transcription	Brain Anterior Caudate	brain
17	chr5:177046800-177054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:177046800-177058800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:177046800-177060200	Weak transcription	Brain Angular Gyrus	brain
20	chr5:177046800-177060800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:177046800-177065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:177047000-177054200	Weak transcription	Fetal Brain Male	brain
24	chr5:177047000-177055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:177047000-177057200	Weak transcription	NHDF-Ad	bronchial
26	chr5:177047000-177058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:177047200-177054400	Weak transcription	Psoas Muscle	Psoas
29	chr5:177047200-177055200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:177047200-177055800	Weak transcription	Colonic Mucosa	Colon
31	chr5:177047200-177060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:177047200-177061000	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:177047200-177064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:177047200-177070800	Weak transcription	Pancreas	Pancrea
35	chr5:177047400-177054200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:177047400-177054600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:177047400-177055600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:177047400-177059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:177047400-177075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:177047800-177055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:177047800-177057400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:177047800-177059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:177047800-177059400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:177047800-177060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:177047800-177068200	Weak transcription	Fetal Intestine Large	intestine
46	chr5:177047800-177069000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:177047800-177080200	Weak transcription	Primary B cells from cord blood	blood
48	chr5:177048000-177061200	Weak transcription	Brain Germinal Matrix	brain
49	chr5:177048000-177069000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:177048400-177058800	Weak transcription	Thymus	Thymus

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