Variant report

Variant	rs539135383
Chromosome Location	chr1:166134770-166134771
allele	C/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	REST	chr1:166133996-166134815	PFSK-1	brain:	n/a	n/a
2	REST	chr1:166134049-166135661	H1-neurons	neurons:	n/a	chr1:166135140-166135148
3	TBP	chr1:166134617-166134817	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr1:166134565-166135212	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
5	SIN3A	chr1:166134059-166135545	H1-hESC	embryonic stem cell:	n/a	chr1:166134458-166134472
6	ZNF143	chr1:166134170-166134849	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr1:166134008-166135070	HL-60	blood:	n/a	n/a
8	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr1:166134149-166134806	PANC-1	pancreas:	n/a	n/a
10	CHD2	chr1:166134183-166134906	H1-hESC	embryonic stem cell:	n/a	n/a
11	UBTF	chr1:166134627-166134793	K562	blood:	n/a	n/a
12	REST	chr1:166134097-166134825	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr1:166134718-166134936	PANC-1	pancreas:	n/a	n/a
14	MAX	chr1:166134166-166135597	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
15	REST	chr1:166134111-166134818	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr1:166134420-166135547	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
17	RAD21	chr1:166134062-166134785	H1-hESC	embryonic stem cell:	n/a	chr1:166134607-166134617
18	MAX	chr1:166134244-166135513	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
19	SUZ12	chr1:166133824-166136040	NT2-D1	testis:	n/a	n/a
20	REST	chr1:166134084-166134836	GM12878	blood:	n/a	n/a
21	ZNF263	chr1:166134445-166135505	HEK293-T-REx	kidney:	n/a	chr1:166135074-166135083 chr1:166135075-166135096
22	BACH1	chr1:166134683-166135066	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000230898	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166132400-166135200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:166133800-166135000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:166134000-166135000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:166134000-166135000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr1:166134000-166135000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr1:166134000-166135000	Active TSS	Right Atrium	heart
9	chr1:166134000-166135200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr1:166134000-166135400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:166134000-166135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:166134000-166135600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:166134000-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
18	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
19	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
21	chr1:166134200-166134800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr1:166134200-166134800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:166134200-166134800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:166134200-166134800	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:166134200-166135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:166134200-166135000	Active TSS	Brain Substantia Nigra	brain
27	chr1:166134200-166135000	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:166134200-166135200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr1:166134200-166135400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr1:166134200-166135600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr1:166134400-166134800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:166134400-166134800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:166134400-166134800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:166134400-166134800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr1:166134400-166134800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
40	chr1:166134400-166134800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr1:166134400-166134800	Bivalent Enhancer	Spleen	Spleen
42	chr1:166134400-166134800	Bivalent/Poised TSS	A549	lung
43	chr1:166134400-166134800	Bivalent/Poised TSS	HSMM	muscle
44	chr1:166134400-166135000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:166134400-166135000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr1:166134400-166135000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:166134400-166135000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:166134400-166135000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:166134400-166135000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:166134400-166135000	Bivalent/Poised TSS	NH-A	brain

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