Variant report

Variant	rs541211569
Chromosome Location	chr1:161139071-161139072
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161138938-161139616	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYA	chr1:161139000-161139299	K562	blood:	n/a	n/a
3	POLR2A	chr1:161138765-161142174	K562	blood:	n/a	n/a
4	POLR2A	chr1:161139062-161139891	K562	blood:	n/a	n/a
5	POLR2A	chr1:161139058-161139082	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161137931..161140889-chr1:161281311..161284069,2	K562	blood:
2	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:

Variant related genes	Relation type
PPOX	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000158850	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3322687	chr1:161138736-161139162	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161137000-161140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:161137200-161139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:161137200-161139200	Weak transcription	Left Ventricle	heart
4	chr1:161137200-161139200	Weak transcription	HSMMtube	muscle
5	chr1:161137200-161139600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:161137200-161140200	Weak transcription	Stomach Mucosa	stomach
7	chr1:161137200-161140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:161137200-161140400	Weak transcription	Fetal Kidney	kidney
9	chr1:161137200-161140800	Weak transcription	Fetal Heart	heart
10	chr1:161137200-161140800	Weak transcription	Psoas Muscle	Psoas
11	chr1:161137200-161142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:161137200-161146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:161137400-161139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:161137400-161139200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:161137400-161139200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:161137400-161139400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:161137400-161139400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:161137400-161139400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:161137400-161139600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:161137400-161139600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:161137400-161139600	Weak transcription	NHEK	skin
22	chr1:161137400-161140200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:161137400-161140200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:161137400-161140200	Weak transcription	HMEC	breast
25	chr1:161137400-161140400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161137400-161140400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:161137400-161140600	Weak transcription	NHDF-Ad	bronchial
28	chr1:161137400-161141400	Weak transcription	Small Intestine	intestine
29	chr1:161137400-161143200	Weak transcription	Right Atrium	heart
30	chr1:161137600-161140200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:161137600-161145600	Strong transcription	Fetal Intestine Small	intestine
32	chr1:161137800-161139400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:161137800-161139400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:161137800-161139600	Weak transcription	Esophagus	oesophagus
35	chr1:161137800-161139600	Weak transcription	Right Ventricle	heart
36	chr1:161137800-161140800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:161137800-161142600	Strong transcription	Fetal Stomach	stomach
38	chr1:161137800-161142800	Strong transcription	Fetal Lung	lung
39	chr1:161137800-161143000	Strong transcription	Spleen	Spleen
40	chr1:161137800-161145600	Weak transcription	Fetal Brain Male	brain
41	chr1:161137800-161145600	Strong transcription	A549	lung
42	chr1:161138000-161139600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:161138000-161140000	Weak transcription	Hela-S3	cervix
44	chr1:161138000-161141400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:161138000-161142000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:161138000-161142600	Strong transcription	Colon Smooth Muscle	Colon
47	chr1:161138000-161142800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:161138000-161143000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:161138000-161145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:161138000-161145600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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