Variant report

Variant	rs202203172
Chromosome Location	chr1:166135271-166135272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:166134049-166135661	H1-neurons	neurons:	n/a	chr1:166135140-166135148
2	CHD2	chr1:166135268-166135502	GM12878	blood:	n/a	n/a
3	SIN3A	chr1:166134059-166135545	H1-hESC	embryonic stem cell:	n/a	chr1:166134458-166134472
4	POLR2A	chr1:166134906-166136215	H1-neurons	neurons:	n/a	n/a
5	ELF1	chr1:166135047-166135539	GM12878	blood:	n/a	n/a
6	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:166134166-166135597	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
8	E2F6	chr1:166134420-166135547	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
9	MAX	chr1:166134244-166135513	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
10	SUZ12	chr1:166133824-166136040	NT2-D1	testis:	n/a	n/a
11	TCF7L2	chr1:166135156-166135570	PANC-1	pancreas:	n/a	n/a
12	ZNF263	chr1:166134445-166135505	HEK293-T-REx	kidney:	n/a	chr1:166135074-166135083 chr1:166135075-166135096
13	CCNT2	chr1:166135247-166135610	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166135233-166135283	HL-60	blood:	n/a
2	chr1:166135267-166135317	Caco-2	colon:	n/a
3	chr1:166135267-166135317	SK-N-MC	brain:	n/a
4	chr1:166135267-166135317	K562	blood:	n/a
5	chr1:166135233-166135283	HCPEpiC	choroid plexus:	n/a
6	chr1:166135267-166135317	NH-A	brain:	n/a
7	chr1:166135233-166135283	NH-A	brain:	n/a
8	chr1:166135267-166135317	HRE	kidney:	n/a
9	chr1:166135267-166135317	GM06990	blood:	n/a
10	chr1:166135267-166135317	GM19239	blood:	n/a
11	chr1:166135233-166135283	IMR90	lung:	fetal
12	chr1:166135267-166135317	AG04449	skin:	fetal
13	chr1:166135267-166135317	LNCaP	prostate:	n/a
14	chr1:166135233-166135283	SK-N-MC	brain:	n/a
15	chr1:166135233-166135283	T-47D	breast:	n/a
16	chr1:166135233-166135283	ovcar-3	ovarian:	n/a
17	chr1:166135233-166135283	BJ	skin:	n/a
18	chr1:166135233-166135283	HRCEpiC	kidney:	n/a
19	chr1:166135233-166135283	H1-hESC	embryonic stem cell:	embryo
20	chr1:166135233-166135283	AG09309	skin:	n/a
21	chr1:166135267-166135317	IMR90	lung:	fetal
22	chr1:166135267-166135317	MCF10A-Er-Src	breast:	n/a
23	chr1:166135267-166135317	HEK293	kidney:	embryo
24	chr1:166135267-166135317	HIPEpiC	eye:	n/a
25	chr1:166135267-166135317	NHBE	bronchial:	n/a
26	chr1:166135233-166135283	AG10803	skin:	n/a
27	chr1:166135233-166135283	Caco-2	colon:	n/a
28	chr1:166135233-166135283	AG09319	gingival:	n/a
29	chr1:166135233-166135283	HMEC	breast:	n/a
30	chr1:166135233-166135283	SK-N-SH	brain:	n/a
31	chr1:166135233-166135283	PANC-1	pancreas:	n/a
32	chr1:166135267-166135317	HMEC	breast:	n/a
33	chr1:166135233-166135283	GM12878	blood:	n/a
34	chr1:166135267-166135317	HCM	heart:	n/a
35	chr1:166135233-166135283	HEK293	kidney:	embryo
36	chr1:166135267-166135317	HRPEpiC	eye:	n/a
37	chr1:166135233-166135283	ProgFib	skin:	n/a
38	chr1:166135233-166135283	NB4	blood:	n/a
39	chr1:166135233-166135283	HEEpiC	esophagus:	n/a
40	chr1:166135267-166135317	RPTEC	kidney:	n/a
41	chr1:166135233-166135283	HUVEC	blood vessel:	n/a
42	chr1:166135267-166135317	SK-N-SH_RA	brain:	n/a
43	chr1:166135267-166135317	AG10803	skin:	n/a
44	chr1:166135267-166135317	ECC-1	luminal epithelium:	n/a
45	chr1:166135267-166135317	NB4	blood:	n/a
46	chr1:166135267-166135317	SAEC	small airway:	n/a
47	chr1:166135267-166135317	HNPCEpiC	eye:	n/a
48	chr1:166135267-166135317	Hepatocyte	liver:	n/a
49	chr1:166135233-166135283	HIPEpiC	eye:	n/a
50	chr1:166135267-166135317	T-47D	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000230898	TF binding region
ENSG00000230898	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS 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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:166134000-166135400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:166134000-166135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:166134000-166135600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:166134000-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
11	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
12	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
14	chr1:166134200-166135400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr1:166134200-166135600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:166134400-166135400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr1:166134400-166135400	Enhancers	Fetal Heart	heart
29	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
31	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
32	chr1:166134400-166135400	Flanking Active TSS	GM12878-XiMat	blood
33	chr1:166134400-166135400	Bivalent/Poised TSS	NHEK	skin
34	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:166134400-166135600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:166134400-166135600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:166134400-166135600	Flanking Active TSS	Liver	Liver
39	chr1:166134400-166135600	Bivalent Enhancer	Placenta	Placenta
40	chr1:166134400-166135600	Flanking Active TSS	Gastric	stomach
41	chr1:166134400-166135600	Flanking Active TSS	Ovary	ovary
42	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:166134400-166136800	Active TSS	Aorta	Aorta
47	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
48	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
50	chr1:166134600-166135400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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