Variant report

Variant	rs558954690
Chromosome Location	chr2:113379749-113379750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:113379459-113380478	MCF10A-Er-Src	breast:	n/a	n/a
2	TEAD4	chr2:113379686-113380534	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr2:113379476-113380493	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
4	GATA1	chr2:113379692-113380566	K562	blood:	n/a	n/a
5	FOS	chr2:113379535-113380460	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr2:113379501-113380478	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr2:113379274-113380652	SK-N-SH	brain:	n/a	n/a
8	STAT3	chr2:113379479-113380522	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
9	POLR2A	chr2:113379667-113380365	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr2:113379532-113380455	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
11	GATA2	chr2:113379285-113380415	HUVEC	blood vessel:	n/a	n/a
12	GATA3	chr2:113379174-113379871	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr2:113378650-113380668	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr2:113378904-113380703	SK-N-SH	brain:	n/a	n/a
15	STAT3	chr2:113379726-113380571	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113379707-113379757	PFSK-1	brain:	n/a
2	chr2:113379707-113379757	AG10803	skin:	n/a
3	chr2:113379707-113379757	HRCEpiC	kidney:	n/a
4	chr2:113379707-113379757	AG04449	skin:	fetal
5	chr2:113379707-113379757	HIPEpiC	eye:	n/a
6	chr2:113379707-113379757	NHDF-neo	bronchial:	n/a
7	chr2:113379707-113379757	GM12891	blood:	n/a
8	chr2:113379707-113379757	GM12892	blood:	n/a
9	chr2:113379707-113379757	SK-N-SH_RA	brain:	n/a
10	chr2:113379707-113379757	AG09309	skin:	n/a
11	chr2:113379707-113379757	HCF	heart:	n/a
12	chr2:113379707-113379757	T-47D	breast:	n/a
13	chr2:113379707-113379757	NH-A	brain:	n/a
14	chr2:113379707-113379757	A549	lung:	n/a
15	chr2:113379707-113379757	SK-N-SH	brain:	n/a
16	chr2:113379707-113379757	SK-N-MC	brain:	n/a
17	chr2:113379707-113379757	HCM	heart:	n/a
18	chr2:113379707-113379757	Caco-2	colon:	n/a
19	chr2:113379707-113379757	Hepatocyte	liver:	n/a
20	chr2:113379707-113379757	HL-60	blood:	n/a
21	chr2:113379707-113379757	LNCaP	prostate:	n/a
22	chr2:113379707-113379757	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:113379707-113379757	HEK293	kidney:	embryo
24	chr2:113379707-113379757	U87	brain:	n/a
25	chr2:113379707-113379757	BJ	skin:	n/a
26	chr2:113379707-113379757	Jurkat	blood:	n/a
27	chr2:113379707-113379757	HMEC	breast:	n/a
28	chr2:113379707-113379757	NHBE	bronchial:	n/a
29	chr2:113379707-113379757	HRPEpiC	eye:	n/a
30	chr2:113379707-113379757	MCF10A-Er-Src	breast:	n/a
31	chr2:113379707-113379757	HCT-116	colon:	n/a
32	chr2:113379707-113379757	AG09319	gingival:	n/a
33	chr2:113379707-113379757	HAEpiC	amniotic membrane:	n/a
34	chr2:113379707-113379757	H1-hESC	embryonic stem cell:	embryo
35	chr2:113379707-113379757	IMR90	lung:	fetal
36	chr2:113379707-113379757	SKMC	muscle:	n/a
37	chr2:113379707-113379757	SAEC	small airway:	n/a
38	chr2:113379707-113379757	PrEC	prostate:	n/a
39	chr2:113379707-113379757	K562	blood:	n/a
40	chr2:113379707-113379757	HCPEpiC	choroid plexus:	n/a
41	chr2:113379707-113379757	RPTEC	kidney:	n/a
42	chr2:113379707-113379757	GM19239	blood:	n/a
43	chr2:113379707-113379757	ovcar-3	ovarian:	n/a
44	chr2:113379707-113379757	Hela-S3	cervix:	n/a
45	chr2:113379707-113379757	GM12878	blood:	n/a
46	chr2:113379707-113379757	MCF-7	breast:	n/a
47	chr2:113379707-113379757	PANC-1	pancreas:	n/a
48	chr2:113379707-113379757	HRE	kidney:	n/a
49	chr2:113379707-113379757	BE2_C	brain:	n/a
50	chr2:113379707-113379757	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
2	chr2:113344897..113346779-chr2:113377975..113380310,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231747	TF binding region
ENSG00000231747	CpG island
ENSG00000243389	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv963705	chr2:113379400-113381483	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
4	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
7	chr2:113372200-113379800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
10	chr2:113372400-113388600	Weak transcription	Gastric	stomach
11	chr2:113372600-113379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:113373000-113379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:113373000-113379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:113373000-113383200	Weak transcription	Fetal Brain Female	brain
16	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:113376600-113379800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:113377400-113384200	Weak transcription	Right Atrium	heart
19	chr2:113378200-113382000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:113378400-113379800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:113378400-113379800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:113378400-113382200	Enhancers	HMEC	breast
23	chr2:113378600-113380200	Enhancers	NHDF-Ad	bronchial
24	chr2:113378600-113380400	Enhancers	NHLF	lung
25	chr2:113378600-113381600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:113378800-113379800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:113378800-113382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:113378800-113384000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:113379000-113379800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:113379200-113380200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:113379400-113380200	Flanking Active TSS	NHEK	skin
32	chr2:113379600-113379800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:113379600-113379800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:113379600-113379800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:113379600-113379800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:113379600-113379800	Flanking Active TSS	Placenta	Placenta
37	chr2:113379600-113379800	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:113379600-113380000	Flanking Active TSS	Hela-S3	cervix
39	chr2:113379600-113380200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:113379600-113380200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:113379600-113380200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:113379600-113380200	Enhancers	A549	lung
43	chr2:113379600-113380200	Flanking Active TSS	NH-A	brain
44	chr2:113379600-113380200	Flanking Active TSS	Osteobl	bone
45	chr2:113379600-113380400	Enhancers	HUES48 Cell Line	embryonic stem cell

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