Variant report

Variant	rs530195686
Chromosome Location	chr1:158016784-158016785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS 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
3	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
4	chr1:158008000-158019600	Weak transcription	Colonic Mucosa	Colon
5	chr1:158008200-158018400	Weak transcription	Spleen	Spleen
6	chr1:158008200-158023000	Weak transcription	A549	lung
7	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
8	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
9	chr1:158009600-158022600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:158010000-158023000	Weak transcription	HSMM	muscle
11	chr1:158010200-158020600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:158011000-158017200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:158012200-158019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:158012400-158017200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:158012800-158016800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:158012800-158017000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:158012800-158017200	Enhancers	Lung	lung
18	chr1:158013000-158017200	Enhancers	Ovary	ovary
19	chr1:158013000-158020600	Enhancers	Fetal Lung	lung
20	chr1:158013200-158017400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:158013400-158017800	Enhancers	Adipose Nuclei	Adipose
22	chr1:158013400-158020600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:158013600-158020600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:158013600-158025600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:158013800-158017000	Strong transcription	NHEK	skin
26	chr1:158013800-158027000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:158014000-158016800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:158014200-158018200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:158014200-158018800	Enhancers	Fetal Kidney	kidney
30	chr1:158014600-158016800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:158014600-158017600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:158014800-158016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:158014800-158016800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:158014800-158016800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:158015000-158016800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:158015000-158016800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:158015000-158016800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:158015000-158018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:158015200-158019000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:158015200-158019200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:158015200-158025400	Weak transcription	Left Ventricle	heart
42	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
43	chr1:158015400-158016800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:158015400-158020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:158015600-158022800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:158015600-158024200	Weak transcription	Fetal Intestine Large	intestine
47	chr1:158015600-158029800	Weak transcription	Gastric	stomach
48	chr1:158015800-158019600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:158016000-158018400	Weak transcription	HMEC	breast
50	chr1:158016000-158019000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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