Variant report

Variant	rs559861478
Chromosome Location	chr5:179334337-179334338
allele	A/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 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	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
11	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
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	chr2:191746477..191747283-chr5:179333954..179334548,2	Hela-S3	cervix:
16	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
17	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
18	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
19	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
20	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
21	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
22	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
23	chr5:179334236..179335161-chr6:31587804..31588782,2	Hela-S3	cervix:
24	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000235852	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000169045	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179333200-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179333200-179334400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:179333400-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:179333400-179334400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:179333400-179334400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:179333400-179334400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr5:179333400-179334400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr5:179333400-179335400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:179333600-179334400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:179333600-179334400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr5:179333600-179334400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr5:179333600-179334400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:179333600-179334400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr5:179333600-179334400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr5:179333600-179334400	Flanking Active TSS	Colonic Mucosa	Colon
16	chr5:179333600-179334400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr5:179333600-179334400	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr5:179333600-179334400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:179333600-179334400	Flanking Active TSS	K562	blood
20	chr5:179333600-179335200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:179333600-179335400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:179333800-179334400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:179333800-179334400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:179333800-179334400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:179333800-179334400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:179333800-179334400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr5:179333800-179334400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:179333800-179334400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:179333800-179334400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:179333800-179334400	Flanking Active TSS	Liver	Liver
31	chr5:179333800-179334400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr5:179333800-179334400	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr5:179333800-179334400	Flanking Active TSS	Placenta	Placenta
34	chr5:179333800-179334400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:179333800-179334400	Flanking Active TSS	Right Ventricle	heart
36	chr5:179333800-179334400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:179333800-179334400	Flanking Active TSS	Spleen	Spleen
38	chr5:179333800-179335000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:179333800-179335200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr5:179333800-179335400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:179333800-179335400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:179333800-179335400	Active TSS	Fetal Kidney	kidney
43	chr5:179333800-179335400	Active TSS	HSMM	muscle
44	chr5:179333800-179335600	Active TSS	Osteobl	bone
45	chr5:179333800-179335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:179333800-179335800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:179334000-179334400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:179334000-179334400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:179334000-179334400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr5:179334000-179334400	Flanking Active TSS	Primary B cells from peripheral blood	blood

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