Variant report

Variant	rs546483070
Chromosome Location	chr1:95583970-95583971
allele	A/G
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	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
3	EP300	chr1:95583867-95584870	K562	blood:	n/a	chr1:95584013-95584027
4	RAD21	chr1:95582036-95584093	SK-N-SH	brain:	n/a	chr1:95583750-95583757 chr1:95583050-95583063 chr1:95583664-95583676 chr1:95583662-95583681 chr1:95583109-95583121 chr1:95583107-95583126
5	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
6	RCOR1	chr1:95583598-95584185	K562	blood:	n/a	n/a
7	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
8	IRF1	chr1:95583761-95584803	K562	blood:	n/a	chr1:95583790-95583804 chr1:95583791-95583811 chr1:95583791-95583805 chr1:95584438-95584452

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
3	chr1:95000799..95003612-chr1:95583736..95585676,2	K562	blood:
4	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
5	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
6	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
7	chr1:95549935..95550783-chr1:95583898..95584460,2	K562	blood:

Variant related genes	Relation type
ENSG00000231992	TF binding region
ENSG00000117525	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000122481	Chromatin interaction

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
4	esv3326839	chr1:95582464-95584412	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:95582200-95584000	Active TSS	Aorta	Aorta
7	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
8	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
10	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
11	chr1:95582200-95584200	Active TSS	A549	lung
12	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:95582200-95584600	Active TSS	Right Atrium	heart
15	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
16	chr1:95582400-95584000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:95582400-95584000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:95582400-95584000	Active TSS	Fetal Intestine Small	intestine
19	chr1:95582400-95584000	Active TSS	Pancreas	Pancrea
20	chr1:95582800-95584000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:95582800-95584000	Active TSS	Lung	lung
22	chr1:95583200-95584000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:95583200-95584000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:95583200-95584000	Flanking Active TSS	Colonic Mucosa	Colon
25	chr1:95583400-95584000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr1:95583400-95584000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:95583400-95584000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
28	chr1:95583400-95584000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr1:95583400-95584200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:95583400-95584200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:95583600-95584000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr1:95583600-95584000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:95583600-95584000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:95583600-95584000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:95583600-95584000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr1:95583600-95584000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr1:95583600-95584000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr1:95583600-95584000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:95583600-95584000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr1:95583600-95584000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr1:95583600-95584000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr1:95583600-95584000	Flanking Active TSS	Placenta	Placenta
50	chr1:95583600-95584000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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