Variant report

Variant	rs145050582
Chromosome Location	chr2:182542873-182542874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:182542451-182543249	IMR90	lung:	n/a	n/a
2	REST	chr2:182542431-182543532	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr2:182542682-182543001	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr2:182542445-182543297	HepG2	liver:	n/a	n/a
5	REST	chr2:182542619-182543257	K562	blood:	n/a	n/a
6	REST	chr2:182542463-182543336	MCF-7	breast:	n/a	n/a
7	MYC	chr2:182542835-182542926	HUVEC	blood vessel:	n/a	n/a
8	CHD2	chr2:182542858-182543027	HepG2	liver:	n/a	n/a
9	REST	chr2:182542253-182543572	A549	lung:	n/a	n/a
10	MYC	chr2:182542755-182542974	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:182542715-182543081	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr2:182542726-182543046	K562	blood:	n/a	n/a
13	RCOR1	chr2:182542708-182543065	K562	blood:	n/a	n/a
14	REST	chr2:182542712-182543076	Hela-S3	cervix:	n/a	n/a
15	MAX	chr2:182542639-182543121	A549	lung:	n/a	n/a
16	RCOR1	chr2:182542733-182543053	HepG2	liver:	n/a	n/a
17	MAX	chr2:182542649-182543097	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr2:182542545-182543300	GM12878	blood:	n/a	n/a
19	REST	chr2:182542671-182543041	U87	brain:	n/a	n/a
20	GTF2F1	chr2:182542815-182543051	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr2:182542290-182543634	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr2:182542309-182543016	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr2:182542857-182542938	H1-hESC	embryonic stem cell:	n/a	n/a
24	UBTF	chr2:182542842-182542920	K562	blood:	n/a	n/a
25	REST	chr2:182542349-182543410	PFSK-1	brain:	n/a	n/a
26	REST	chr2:182542466-182543307	HCT-116	colon:	n/a	n/a
27	REST	chr2:182542350-182543592	HepG2	liver:	n/a	n/a
28	REST	chr2:182542509-182543338	K562	blood:	n/a	n/a
29	REST	chr2:182542596-182543295	HepG2	liver:	n/a	n/a
30	REST	chr2:182542376-182543562	HCT-116	colon:	n/a	n/a
31	SUZ12	chr2:182542453-182544694	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOXP2	chr2:182542676-182543018	SK-N-MC	brain:	n/a	n/a
33	REST	chr2:182542522-182543330	PANC-1	pancreas:	n/a	n/a
34	RAD21	chr2:182542667-182543101	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr2:182542719-182542957	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr2:182542495-182543301	U87	brain:	n/a	n/a
37	TCF12	chr2:182542811-182542997	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr2:182542593-182543184	A549	lung:	n/a	n/a
39	REST	chr2:182542597-182543065	GM12878	blood:	n/a	n/a
40	EP300	chr2:182542720-182542999	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr2:182542728-182542937	K562	blood:	n/a	n/a
42	KAP1	chr2:182542577-182543103	HEK293	kidney:	n/a	n/a
43	REST	chr2:182542184-182543597	PANC-1	pancreas:	n/a	n/a
44	REST	chr2:182542715-182543012	GM12878	blood:	n/a	n/a
45	TEAD4	chr2:182542726-182543048	H1-hESC	embryonic stem cell:	n/a	n/a
46	BHLHE40	chr2:182542806-182542959	K562	blood:	n/a	n/a
47	POLR2A	chr2:182542649-182543177	H1-neurons	neurons:	n/a	n/a
48	YY1	chr2:182542730-182543003	ECC-1	luminal epithelium:	n/a	n/a
49	REST	chr2:182542440-182543361	H1-neurons	neurons:	n/a	n/a
50	REST	chr2:182542732-182543016	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:182542864-182542914	HIPEpiC	eye:	n/a
2	chr2:182542864-182542914	IMR90	lung:	fetal
3	chr2:182542864-182542914	GM06990	blood:	n/a
4	chr2:182542864-182542914	SKMC	muscle:	n/a
5	chr2:182542864-182542914	SK-N-MC	brain:	n/a
6	chr2:182542864-182542914	ProgFib	skin:	n/a
7	chr2:182542864-182542914	AG09309	skin:	n/a
8	chr2:182542864-182542914	NHDF-neo	bronchial:	n/a
9	chr2:182542864-182542914	RPTEC	kidney:	n/a
10	chr2:182542864-182542914	NB4	blood:	n/a
11	chr2:182542864-182542914	HCM	heart:	n/a
12	chr2:182542864-182542914	MCF-7	breast:	n/a
13	chr2:182542864-182542914	H1-hESC	embryonic stem cell:	embryo
14	chr2:182542864-182542914	HRPEpiC	eye:	n/a
15	chr2:182542864-182542914	GM19239	blood:	n/a
16	chr2:182542864-182542914	HMEC	breast:	n/a
17	chr2:182542864-182542914	AoSMC	blood vessel:	n/a
18	chr2:182542864-182542914	AG04450	lung:	fetal
19	chr2:182542864-182542914	HEEpiC	esophagus:	n/a
20	chr2:182542864-182542914	NT2-D1	testis:	n/a
21	chr2:182542864-182542914	CMK	blood:	n/a
22	chr2:182542864-182542914	HRE	kidney:	n/a
23	chr2:182542864-182542914	AG04449	skin:	fetal
24	chr2:182542864-182542914	GM12878	blood:	n/a
25	chr2:182542864-182542914	PFSK-1	brain:	n/a
26	chr2:182542864-182542914	ovcar-3	ovarian:	n/a
27	chr2:182542864-182542914	Caco-2	colon:	n/a
28	chr2:182542864-182542914	HAEpiC	amniotic membrane:	n/a
29	chr2:182542864-182542914	BJ	skin:	n/a
30	chr2:182542864-182542914	Jurkat	blood:	n/a
31	chr2:182542864-182542914	NH-A	brain:	n/a
32	chr2:182542864-182542914	HepG2	liver:	n/a
33	chr2:182542864-182542914	HEK293	kidney:	embryo
34	chr2:182542864-182542914	HCPEpiC	choroid plexus:	n/a
35	chr2:182542864-182542914	HCF	heart:	n/a
36	chr2:182542864-182542914	NHBE	bronchial:	n/a
37	chr2:182542864-182542914	HUVEC	blood vessel:	n/a
38	chr2:182542864-182542914	HL-60	blood:	n/a
39	chr2:182542864-182542914	A549	lung:	n/a
40	chr2:182542864-182542914	SAEC	small airway:	n/a
41	chr2:182542864-182542914	MCF10A-Er-Src	breast:	n/a
42	chr2:182542864-182542914	BE2_C	brain:	n/a
43	chr2:182542864-182542914	T-47D	breast:	n/a
44	chr2:182542864-182542914	K562	blood:	n/a
45	chr2:182542864-182542914	AG10803	skin:	n/a
46	chr2:182542864-182542914	PrEC	prostate:	n/a
47	chr2:182542864-182542914	Hepatocyte	liver:	n/a
48	chr2:182542864-182542914	PANC-1	pancreas:	n/a
49	chr2:182542864-182542914	HCT-116	colon:	n/a
50	chr2:182542864-182542914	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182541170..182543258-chr2:182550470..182553269,2	MCF-7	breast:
2	chr2:182542601..182545361-chr2:182546496..182548838,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234595	TF binding region
ENSG00000234595	CpG island
ENSG00000234595	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv820203	chr2:182542727-182543097	Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182542200-182543800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:182542400-182543200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:182542400-182543200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:182542400-182543200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:182542400-182543400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr2:182542400-182543400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:182542400-182543400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr2:182542400-182543400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:182542400-182543600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:182542400-182543600	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
11	chr2:182542400-182543600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:182542400-182545000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:182542400-182545400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr2:182542400-182546200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr2:182542600-182543000	Bivalent Enhancer	Fetal Brain Male	brain
16	chr2:182542600-182543000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
17	chr2:182542600-182543000	Flanking Active TSS	Pancreas	Pancrea
18	chr2:182542600-182543200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:182542600-182543200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:182542600-182543200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:182542600-182543200	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr2:182542600-182543200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:182542600-182543200	Bivalent Enhancer	NH-A	brain
24	chr2:182542600-182543600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr2:182542600-182543600	Bivalent Enhancer	Fetal Thymus	thymus
26	chr2:182542600-182543800	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr2:182542600-182545200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr2:182542800-182543000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:182542800-182543000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:182542800-182543000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:182542800-182543200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
32	chr2:182542800-182543200	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr2:182542800-182543200	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr2:182542800-182543400	Bivalent Enhancer	Placenta	Placenta
35	chr2:182542800-182543600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr2:182542800-182543600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr2:182542800-182543600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:182542800-182543600	ZNF genes & repeats	Spleen	Spleen
39	chr2:182542800-182543800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr2:182542800-182544200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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