Variant report

Variant	rs530267140
Chromosome Location	chr5:118661936-118661937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118626131..118628093-chr5:118660275..118663630,3	K562	blood:
2	chr5:118636247..118638488-chr5:118660209..118662344,2	K562	blood:
3	chr5:118626131..118628093-chr5:118660275..118662389,2	K562	blood:
4	chr5:118657545..118660417-chr5:118661567..118663865,2	MCF-7	breast:
5	chr5:118603982..118606097-chr5:118661262..118663563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
5	chr5:118653800-118663000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:118654400-118663400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:118655000-118664600	Enhancers	Thymus	Thymus
8	chr5:118655600-118662600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:118655600-118663200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:118656400-118663000	Enhancers	Placenta	Placenta
11	chr5:118656600-118664400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:118657200-118663200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:118657200-118665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:118657200-118665400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:118657400-118663200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:118657400-118664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118657600-118664200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:118657600-118665200	Enhancers	NH-A	brain
19	chr5:118657800-118664800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:118658200-118670400	Weak transcription	Lung	lung
21	chr5:118658400-118663800	Weak transcription	Fetal Lung	lung
22	chr5:118658800-118665600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:118659200-118664600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:118659600-118662400	Weak transcription	Small Intestine	intestine
25	chr5:118659600-118663800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:118659600-118664000	Weak transcription	HSMM	muscle
27	chr5:118659600-118664200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:118659600-118664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:118659600-118664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:118660000-118664600	Weak transcription	Colonic Mucosa	Colon
32	chr5:118660200-118663800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:118660200-118664000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:118660200-118664200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:118660200-118678600	Weak transcription	HepG2	liver
38	chr5:118660400-118662200	Enhancers	K562	blood
39	chr5:118660400-118662400	Enhancers	Primary T cells from cord blood	blood
40	chr5:118660400-118662600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:118660400-118662600	Enhancers	Fetal Thymus	thymus
42	chr5:118660400-118662600	Weak transcription	Stomach Mucosa	stomach
43	chr5:118660400-118663800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:118660400-118663800	Enhancers	Dnd41	blood
45	chr5:118660400-118664000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:118660400-118664200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:118660400-118664600	Enhancers	GM12878-XiMat	blood
48	chr5:118660400-118666000	Enhancers	Adipose Nuclei	Adipose
49	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:118660400-118670400	Weak transcription	Right Atrium	heart

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