Variant report

Variant	rs548737650
Chromosome Location	chr1:158022826-158022827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158020778..158022913-chr1:158023711..158025340,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
4	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 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	chr1:158008200-158023000	Weak transcription	A549	lung
5	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
6	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
7	chr1:158010000-158023000	Weak transcription	HSMM	muscle
8	chr1:158013600-158025600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:158013800-158027000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:158015200-158025400	Weak transcription	Left Ventricle	heart
11	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
12	chr1:158015600-158024200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:158015600-158029800	Weak transcription	Gastric	stomach
14	chr1:158016000-158025600	Weak transcription	Fetal Thymus	thymus
15	chr1:158016000-158025800	Weak transcription	Pancreas	Pancrea
16	chr1:158016200-158025600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:158016200-158025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:158016200-158030200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:158016600-158025000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:158016600-158028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:158016800-158024400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:158016800-158024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:158016800-158024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:158016800-158028000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:158016800-158028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:158016800-158029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:158017200-158025000	Weak transcription	Right Atrium	heart
28	chr1:158017400-158024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:158017600-158025600	Weak transcription	Right Ventricle	heart
30	chr1:158018800-158024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:158018800-158025000	Weak transcription	Spleen	Spleen
32	chr1:158019800-158023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:158019800-158025600	Weak transcription	Aorta	Aorta
34	chr1:158020000-158025200	Weak transcription	Adipose Nuclei	Adipose
35	chr1:158020200-158028400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:158020200-158034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:158020400-158023000	Weak transcription	NH-A	brain
38	chr1:158020400-158024600	Weak transcription	Fetal Stomach	stomach
39	chr1:158020400-158026000	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:158020400-158026000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:158020600-158023600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:158020600-158025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:158020800-158023000	Strong transcription	Fetal Kidney	kidney
44	chr1:158021000-158025200	Weak transcription	Ovary	ovary
45	chr1:158021000-158025400	Weak transcription	Lung	lung
46	chr1:158021200-158023000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:158021200-158023200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:158021200-158024000	Weak transcription	Fetal Lung	lung
49	chr1:158021200-158024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:158021400-158024800	Weak transcription	Fetal Muscle Trunk	muscle

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