Variant report

Variant	rs569162493
Chromosome Location	chr5:179333592-179333593
allele	A/C
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	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
2	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
3	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
4	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
5	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
6	chr5:179247957..179250042-chr5:179330844..179333661,2	K562	blood:
7	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
8	chr5:179232711..179234875-chr5:179332233..179334161,2	K562	blood:
9	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
10	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
11	chr5:179320962..179322826-chr5:179332050..179333678,2	K562	blood:
12	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
13	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
14	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
15	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
16	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
17	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
18	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
19	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
20	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
21	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:179320400-179333600	Weak transcription	Stomach Mucosa	stomach
5	chr5:179321000-179333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:179326400-179333800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:179327000-179333600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:179328200-179333600	Weak transcription	Psoas Muscle	Psoas
9	chr5:179329600-179333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:179329800-179333600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr5:179331000-179333600	Weak transcription	Fetal Kidney	kidney
12	chr5:179332000-179333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:179332000-179333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:179332000-179333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:179332000-179333600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:179332000-179333600	Weak transcription	Brain Angular Gyrus	brain
17	chr5:179332000-179333600	Weak transcription	Left Ventricle	heart
18	chr5:179332000-179333600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:179332000-179333600	Genic enhancers	K562	blood
20	chr5:179332000-179333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:179332000-179334000	Weak transcription	Aorta	Aorta
22	chr5:179332200-179333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:179332200-179333600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:179332200-179333600	Weak transcription	Fetal Lung	lung
25	chr5:179332400-179333600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:179332600-179333600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:179332600-179333800	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:179332800-179333600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:179332800-179333600	Enhancers	Fetal Brain Female	brain
30	chr5:179333000-179333600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:179333000-179333600	Genic enhancers	Esophagus	oesophagus
32	chr5:179333000-179333600	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:179333000-179333800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:179333000-179334000	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:179333000-179334000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:179333200-179333600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:179333200-179333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:179333200-179333600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:179333200-179333600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:179333200-179333600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:179333200-179333600	Enhancers	Colonic Mucosa	Colon
42	chr5:179333200-179333600	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr5:179333200-179333600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:179333200-179333600	Genic enhancers	Fetal Intestine Large	intestine
45	chr5:179333200-179333600	Genic enhancers	Fetal Intestine Small	intestine
46	chr5:179333200-179333600	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr5:179333200-179333600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr5:179333200-179333600	Enhancers	Fetal Thymus	thymus
49	chr5:179333200-179333600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:179333200-179333600	Genic enhancers	A549	lung

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