Variant report

Variant	rs530005553
Chromosome Location	chr5:179334841-179334842
allele	C/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
2	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
3	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
4	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
5	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
6	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
7	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
8	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
9	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
10	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
11	chr19:10305209..10305779-chr5:179334660..179335178,2	HCT-116	colon:
12	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
13	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
14	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
15	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
16	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
17	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
18	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
19	chr5:179334236..179335161-chr6:31587804..31588782,2	Hela-S3	cervix:
20	chr5:179293404..179294329-chr5:179334551..179335058,2	MCF-7	breast:
21	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000130816	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
8	esv3357023	chr5:179333371-179336219	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3375542	chr5:179333746-179336144	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179333400-179335400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:179333600-179335200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:179333600-179335400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:179333800-179335000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:179333800-179335200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:179333800-179335400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:179333800-179335400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:179333800-179335400	Active TSS	Fetal Kidney	kidney
9	chr5:179333800-179335400	Active TSS	HSMM	muscle
10	chr5:179333800-179335600	Active TSS	Osteobl	bone
11	chr5:179333800-179335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:179333800-179335800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:179334000-179335000	Active TSS	Small Intestine	intestine
14	chr5:179334000-179335000	Active TSS	GM12878-XiMat	blood
15	chr5:179334000-179335200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:179334000-179335200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:179334000-179335200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:179334000-179335200	Active TSS	Aorta	Aorta
19	chr5:179334000-179335400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:179334000-179335400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:179334000-179335400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:179334000-179335400	Active TSS	Fetal Intestine Large	intestine
23	chr5:179334000-179335400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr5:179334000-179335400	Active TSS	A549	lung
25	chr5:179334000-179335400	Active TSS	NHEK	skin
26	chr5:179334000-179335600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:179334000-179335600	Active TSS	HepG2	liver
28	chr5:179334200-179335000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:179334200-179335000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:179334200-179335000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:179334200-179335000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:179334200-179335000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:179334200-179335000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:179334200-179335000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:179334200-179335000	Active TSS	Brain Substantia Nigra	brain
36	chr5:179334200-179335000	Active TSS	Fetal Brain Female	brain
37	chr5:179334200-179335000	Active TSS	Fetal Intestine Small	intestine
38	chr5:179334200-179335000	Active TSS	Fetal Thymus	thymus
39	chr5:179334200-179335000	Active TSS	Pancreas	Pancrea
40	chr5:179334200-179335000	Active TSS	HMEC	breast
41	chr5:179334200-179335000	Active TSS	HUVEC	blood vessel
42	chr5:179334200-179335000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr5:179334200-179335200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:179334200-179335200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:179334200-179335200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr5:179334200-179335200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:179334200-179335200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:179334200-179335200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:179334200-179335200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:179334200-179335200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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