Variant report

Variant	rs545503535
Chromosome Location	chr2:86257144-86257145
allele	C/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	RAD21	chr2:86257106-86257322	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:86257084-86257438	K562	blood:	n/a	n/a
3	ESR1	chr2:86257028-86257268	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
POLR1A	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv32617	chr2:86256641-86260285	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
3	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:86248800-86257200	Weak transcription	Fetal Kidney	kidney
6	chr2:86250800-86262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:86251000-86261000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:86251000-86262000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:86251000-86262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:86251000-86262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:86251200-86261600	Strong transcription	NH-A	brain
12	chr2:86251200-86261800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:86251200-86262400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:86251200-86262800	Strong transcription	Fetal Brain Female	brain
15	chr2:86251200-86263200	Strong transcription	A549	lung
16	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr2:86251200-86283000	Strong transcription	HepG2	liver
19	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:86251400-86261000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:86251400-86261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:86251400-86261200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:86251400-86262000	Strong transcription	Osteobl	bone
26	chr2:86251400-86262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:86251400-86263400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:86251600-86261600	Strong transcription	HMEC	breast
29	chr2:86251800-86259400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:86251800-86262000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:86251800-86262400	Strong transcription	Fetal Intestine Small	intestine
32	chr2:86252000-86262000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:86252200-86262000	Strong transcription	GM12878-XiMat	blood
35	chr2:86252200-86262400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:86252200-86262600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:86252400-86258800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:86252400-86261000	Strong transcription	Dnd41	blood
41	chr2:86252400-86261600	Strong transcription	Esophagus	oesophagus
42	chr2:86252400-86262200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:86252400-86262400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:86252400-86262400	Strong transcription	NHEK	skin
45	chr2:86252400-86262600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:86252400-86263000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:86252600-86259000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:86252600-86259400	Strong transcription	Primary B cells from cord blood	blood
50	chr2:86252600-86260200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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