Variant report

Variant	rs534431005
Chromosome Location	chr1:161185406-161185407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161184831-161185582	K562	blood:	n/a	n/a
2	POLR2A	chr1:161184705-161185427	K562	blood:	n/a	n/a
3	POLR2A	chr1:161184826-161185413	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:161184736-161185425	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:161184791-161185429	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:161184802-161185420	HCT-116	colon:	n/a	n/a
7	POLR2A	chr1:161184959-161185409	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:161185368-161185785	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:161184801-161185425	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr1:161184661-161185458	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161178470..161182189-chr1:161183792..161185908,3	K562	blood:
2	chr1:161172161..161173838-chr1:161184406..161186813,2	MCF-7	breast:
3	chr1:161184335..161187137-chr1:161197763..161199815,2	MCF-7	breast:
4	chr1:161183575..161186410-chr1:161283060..161284793,2	K562	blood:
5	chr1:161167824..161171271-chr1:161185300..161189545,6	K562	blood:
6	chr1:161174340..161177261-chr1:161184177..161187109,2	K562	blood:
7	chr1:161175566..161178282-chr1:161184177..161186435,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268387	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158882	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	nsv482136	chr1:161185087-161189038	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr1:161172800-161186800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161175000-161185800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:161175400-161185800	Strong transcription	Fetal Stomach	stomach
5	chr1:161176400-161185800	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr1:161177200-161185600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:161177400-161186000	Weak transcription	Right Atrium	heart
8	chr1:161178600-161185600	Strong transcription	NHLF	lung
9	chr1:161178800-161185600	Strong transcription	HMEC	breast
10	chr1:161178800-161186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:161180000-161185800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:161180200-161185600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:161180600-161186200	Weak transcription	Fetal Heart	heart
14	chr1:161181200-161186400	Weak transcription	Stomach Mucosa	stomach
15	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
16	chr1:161184000-161187000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:161184000-161187200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:161184200-161185800	Weak transcription	K562	blood
19	chr1:161184200-161186200	Weak transcription	NHDF-Ad	bronchial
20	chr1:161184200-161186400	Weak transcription	Fetal Lung	lung
21	chr1:161184200-161186400	Weak transcription	HSMMtube	muscle
22	chr1:161184200-161186600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:161184200-161190200	Weak transcription	Psoas Muscle	Psoas
24	chr1:161184400-161186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:161184400-161186200	Weak transcription	HSMM	muscle
26	chr1:161184400-161186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:161184400-161186600	Weak transcription	Fetal Kidney	kidney
28	chr1:161184400-161186600	Weak transcription	Ovary	ovary
29	chr1:161184400-161186800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:161184400-161187000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:161184400-161188400	Weak transcription	Fetal Brain Male	brain
32	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:161184400-161195000	Weak transcription	NHEK	skin
35	chr1:161184600-161185600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:161184600-161185800	Weak transcription	Right Ventricle	heart
37	chr1:161184600-161186200	Weak transcription	GM12878-XiMat	blood
38	chr1:161184600-161186400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:161184600-161186400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:161184600-161186400	Weak transcription	Brain Angular Gyrus	brain
41	chr1:161184600-161186600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:161184600-161186600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:161184600-161187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
48	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
49	chr1:161184800-161185800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr1:161184800-161186400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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