Variant report

Variant	rs575200189
Chromosome Location	chr1:92070186-92070187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92067249..92070219-chr1:92074709..92076665,2	K562	blood:
2	chr1:92067249..92070219-chr1:92074709..92076906,3	K562	blood:
3	chr1:92059728..92061441-chr1:92068842..92071690,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv947497	chr1:92067233-92076450	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
3	chr1:92060600-92070200	Weak transcription	Right Ventricle	heart
4	chr1:92060800-92070200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:92062400-92074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:92067600-92071600	Weak transcription	Spleen	Spleen
7	chr1:92067800-92070400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:92068200-92071800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
10	chr1:92068400-92070200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:92068800-92074400	Weak transcription	Placenta	Placenta
12	chr1:92069200-92072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:92069400-92072800	Enhancers	Fetal Heart	heart
14	chr1:92069600-92074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:92070000-92070200	Enhancers	Right Atrium	heart
16	chr1:92070000-92070200	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:92070000-92070600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:92070000-92070600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:92070000-92070600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:92070000-92070600	Enhancers	Left Ventricle	heart
21	chr1:92070000-92070600	Enhancers	Hela-S3	cervix
22	chr1:92070000-92070800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:92070000-92070800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:92070000-92070800	Enhancers	Ovary	ovary
25	chr1:92070000-92070800	Enhancers	HSMM	muscle
26	chr1:92070000-92070800	Enhancers	HSMMtube	muscle
27	chr1:92070000-92070800	Enhancers	NHDF-Ad	bronchial
28	chr1:92070000-92071000	Enhancers	Colon Smooth Muscle	Colon
29	chr1:92070000-92071000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:92070000-92071400	Enhancers	Fetal Stomach	stomach
31	chr1:92070000-92072200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:92070000-92072400	Enhancers	Fetal Muscle Leg	muscle

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