Variant report

Variant	rs553065179
Chromosome Location	chr2:96069965-96069966
allele	C/G
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	chr2:96067580-96070004	H1-hESC	embryonic stem cell:	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96067800-96070000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:96067800-96070000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:96069000-96070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:96069000-96070000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:96069000-96080200	Weak transcription	Aorta	Aorta
8	chr2:96069200-96070000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:96069200-96070000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:96069200-96070000	Flanking Active TSS	Dnd41	blood
11	chr2:96069200-96076000	Weak transcription	Lung	lung
12	chr2:96069400-96070000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:96069400-96070000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:96069400-96070000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:96069400-96070000	Enhancers	Right Atrium	heart
16	chr2:96069400-96070200	Weak transcription	Esophagus	oesophagus
17	chr2:96069400-96070200	Enhancers	Pancreas	Pancrea
18	chr2:96069400-96070600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:96069400-96071000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:96069400-96071200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:96069400-96072200	Weak transcription	Psoas Muscle	Psoas
22	chr2:96069400-96072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:96069400-96073000	Weak transcription	Placenta	Placenta
24	chr2:96069400-96076600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:96069400-96080600	Weak transcription	Left Ventricle	heart
26	chr2:96069400-96080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:96069600-96070000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:96069600-96070000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:96069600-96070000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:96069600-96070000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:96069600-96070000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:96069600-96070000	Enhancers	Adipose Nuclei	Adipose
33	chr2:96069600-96070000	Enhancers	Brain Anterior Caudate	brain
34	chr2:96069600-96070000	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:96069600-96070000	Enhancers	A549	lung
36	chr2:96069600-96070000	Enhancers	HSMM	muscle
37	chr2:96069600-96070000	Enhancers	NHEK	skin
38	chr2:96069600-96070200	Enhancers	Brain Hippocampus Middle	brain
39	chr2:96069600-96070200	Enhancers	Fetal Brain Female	brain
40	chr2:96069600-96070600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:96069600-96072600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:96069600-96072600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:96069600-96072800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:96069600-96073000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:96069600-96073200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:96069600-96073400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:96069600-96073400	Weak transcription	HUVEC	blood vessel
48	chr2:96069600-96074000	Weak transcription	Primary T cells from cord blood	blood
49	chr2:96069600-96075000	Weak transcription	Fetal Stomach	stomach
50	chr2:96069600-96075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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