Variant report

Variant	rs558714340
Chromosome Location	chr2:96070762-96070763
allele	G/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	USF1	chr2:96070509-96070782	K562	blood:	n/a	chr2:96070694-96070705
2	USF1	chr2:96070526-96070795	H1-hESC	embryonic stem cell:	n/a	chr2:96070694-96070705
3	YY1	chr2:96070563-96070797	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:96070663-96071207	GM12878	blood:	n/a	n/a
5	CTCF	chr2:96070640-96070790	GM12872	blood:	n/a	n/a
6	CTCF	chr2:96070545-96070771	H1-hESC	embryonic stem cell:	n/a	chr2:96070639-96070652
7	CTCF	chr2:96070720-96070870	GM12878	blood:	n/a	n/a
8	USF1	chr2:96070582-96070789	HepG2	liver:	n/a	chr2:96070694-96070705
9	POLR2A	chr2:96070506-96071353	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr2:96070590-96070797	H1-hESC	embryonic stem cell:	n/a	chr2:96070694-96070705
11	CTCF	chr2:96070620-96070770	HCT-116	colon:	n/a	chr2:96070639-96070652
12	CTCF	chr2:96070620-96070770	WERI-Rb-1	eye:	n/a	chr2:96070639-96070652
13	CTCF	chr2:96070620-96070770	Hela-S3	cervix:	n/a	chr2:96070639-96070652
14	CTCF	chr2:96070640-96070790	NHEK	skin:	n/a	n/a

Variant related genes	Relation type
FAHD2A	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv961449	chr2:96069177-96081253	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96069000-96080200	Weak transcription	Aorta	Aorta
2	chr2:96069200-96076000	Weak transcription	Lung	lung
3	chr2:96069400-96071000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:96069400-96071200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:96069400-96072200	Weak transcription	Psoas Muscle	Psoas
6	chr2:96069400-96072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:96069400-96073000	Weak transcription	Placenta	Placenta
8	chr2:96069400-96076600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:96069400-96080600	Weak transcription	Left Ventricle	heart
10	chr2:96069400-96080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:96069600-96072600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:96069600-96072600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:96069600-96072800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:96069600-96073000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:96069600-96073200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:96069600-96073400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:96069600-96073400	Weak transcription	HUVEC	blood vessel
18	chr2:96069600-96074000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:96069600-96075000	Weak transcription	Fetal Stomach	stomach
20	chr2:96069600-96075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:96069600-96076000	Weak transcription	Gastric	stomach
22	chr2:96069600-96076600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:96069600-96076600	Weak transcription	HSMMtube	muscle
24	chr2:96069600-96076800	Weak transcription	Spleen	Spleen
25	chr2:96069600-96076800	Weak transcription	Osteobl	bone
26	chr2:96069600-96077000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:96069600-96077000	Weak transcription	Fetal Thymus	thymus
28	chr2:96069600-96078600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:96069600-96079000	Weak transcription	Fetal Lung	lung
30	chr2:96069600-96079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:96069600-96079400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:96069600-96079600	Weak transcription	Primary B cells from cord blood	blood
33	chr2:96069600-96080000	Weak transcription	NHLF	lung
34	chr2:96069600-96080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:96069600-96080400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:96069600-96080800	Weak transcription	Ovary	ovary
37	chr2:96069600-96081200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:96069800-96070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:96069800-96071000	Enhancers	Liver	Liver
40	chr2:96069800-96072600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:96069800-96072800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:96069800-96072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:96069800-96073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:96069800-96073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:96069800-96073200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:96069800-96073400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:96069800-96073400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:96069800-96074000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:96069800-96074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:96069800-96076000	Weak transcription	Primary monocytes fromperipheralblood	blood

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