Variant report

Variant	rs551058260
Chromosome Location	chr2:96069552-96069553
allele	A/C
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	POLR2A	chr2:96067726-96069739	HepG2	liver:	n/a	n/a
2	CTCF	chr2:96067974-96069625	A549	lung:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
3	POLR2A	chr2:96067580-96070004	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:96069409-96069929	GM12878	blood:	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96067400-96069600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:96067600-96069600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:96067600-96069600	Active TSS	Fetal Kidney	kidney
4	chr2:96067800-96069600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:96067800-96069600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:96067800-96069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:96067800-96069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:96067800-96069600	Active TSS	Brain Germinal Matrix	brain
9	chr2:96067800-96069800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:96067800-96069800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:96067800-96069800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:96067800-96070000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:96067800-96070000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:96068000-96069600	Active TSS	Right Ventricle	heart
15	chr2:96068000-96069800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:96068600-96069600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:96068600-96069600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:96068800-96069600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr2:96068800-96069600	Flanking Active TSS	HUVEC	blood vessel
23	chr2:96068800-96069600	Flanking Active TSS	NH-A	brain
24	chr2:96068800-96069800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr2:96069000-96069600	Active TSS	Primary B cells from cord blood	blood
28	chr2:96069000-96069600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr2:96069000-96069600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:96069000-96069600	Flanking Active TSS	Fetal Stomach	stomach
31	chr2:96069000-96069600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:96069000-96069600	Flanking Active TSS	HMEC	breast
33	chr2:96069000-96069800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:96069000-96069800	Flanking Active TSS	Liver	Liver
35	chr2:96069000-96069800	Enhancers	Stomach Mucosa	stomach
36	chr2:96069000-96070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:96069000-96070000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:96069000-96080200	Weak transcription	Aorta	Aorta
39	chr2:96069200-96069600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:96069200-96069600	Enhancers	Primary B cells from peripheral blood	blood
41	chr2:96069200-96069600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr2:96069200-96069600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:96069200-96069600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr2:96069200-96069600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:96069200-96069600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:96069200-96069600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:96069200-96069600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:96069200-96069600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:96069200-96069600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:96069200-96069600	Flanking Active TSS	Brain Anterior Caudate	brain

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