Variant report

Variant	rs184663550
Chromosome Location	chr5:118611445-118611446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
2	chr5:118406002..118408491-chr5:118610029..118612989,2	MCF-7	breast:
3	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
4	chr5:118574634..118576211-chr5:118609734..118611582,2	MCF-7	breast:
5	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
6	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
7	chr5:118609964..118611606-chr5:118621803..118623586,2	MCF-7	breast:
8	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
9	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
6	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
7	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
8	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
9	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:118607000-118612400	Enhancers	Small Intestine	intestine
12	chr5:118607400-118612400	Enhancers	Placenta	Placenta
13	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:118608800-118612000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:118609200-118612600	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:118609400-118615200	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:118609600-118611600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:118609600-118611800	Enhancers	Adipose Nuclei	Adipose
20	chr5:118609600-118613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:118609600-118613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:118609800-118611800	Enhancers	HUVEC	blood vessel
23	chr5:118609800-118612600	Genic enhancers	Fetal Thymus	thymus
24	chr5:118610400-118611600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:118610400-118612000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr5:118610400-118612200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:118610400-118613200	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr5:118610400-118613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:118610400-118613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:118610400-118613800	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:118610400-118614800	Weak transcription	Gastric	stomach
32	chr5:118610400-118618200	Weak transcription	Left Ventricle	heart
33	chr5:118610400-118619600	Genic enhancers	Dnd41	blood
34	chr5:118610600-118611600	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:118610600-118611600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:118610600-118611800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:118610600-118611800	Enhancers	HMEC	breast
38	chr5:118610600-118612000	Weak transcription	Fetal Heart	heart
39	chr5:118610600-118612200	Weak transcription	Colonic Mucosa	Colon
40	chr5:118610600-118613200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:118610600-118614200	Weak transcription	Spleen	Spleen
42	chr5:118610600-118615800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:118610600-118619800	Weak transcription	Aorta	Aorta
44	chr5:118610600-118622600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:118610800-118611600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:118610800-118611800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:118610800-118611800	Weak transcription	Stomach Mucosa	stomach
48	chr5:118610800-118612400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:118611000-118611800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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