Variant report

Variant	esv3388576
Chromosome Location	chr5:118610398-118610749
allele	n/a
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118574634..118576211-chr5:118609734..118611582,2	MCF-7	breast:
2	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
3	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:
4	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
5	chr5:118609066..118610745-chr5:118637168..118638991,2	K562	blood:
6	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
7	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
8	chr5:118609964..118611606-chr5:118621803..118623586,2	MCF-7	breast:
9	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
10	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
11	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
12	chr5:118406002..118408491-chr5:118610029..118612989,2	MCF-7	breast:
13	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172869	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000145779	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574141247	chr5:118610416-118610417	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs112600379	chr5:118610431-118610432	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs563147231	chr5:118610480-118610481	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192348603	chr5:118610509-118610510	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1504977	chr5:118610519-118610520	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545756545	chr5:118610556-118610557	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529247046	chr5:118610557-118610558	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1504978	chr5:118610560-118610561	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547897226	chr5:118610569-118610570	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561242923	chr5:118610575-118610576	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs535960747	chr5:118610647-118610648	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs147998366	chr5:118610648-118610649	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547756818	chr5:118610679-118610680	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs142962299	chr5:118610707-118610708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557009190	chr5:118610709-118610710	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs5870846	chr5:118610719-118610720	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs397885079	chr5:118610724-118610725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529871059	chr5:118610738-118610739	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

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	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:118605400-118611200	Weak transcription	Lung	lung
5	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
8	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
9	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
10	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
11	chr5:118606800-118610400	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr5:118606800-118610600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:118606800-118610600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:118606800-118611200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr5:118606800-118611400	Flanking Active TSS	GM12878-XiMat	blood
16	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:118607000-118610400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:118607000-118610600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:118607000-118611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:118607000-118612400	Enhancers	Small Intestine	intestine
22	chr5:118607200-118610600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:118607400-118612400	Enhancers	Placenta	Placenta
24	chr5:118607800-118610600	Genic enhancers	K562	blood
25	chr5:118607800-118611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:118608400-118610600	Enhancers	Fetal Muscle Leg	muscle
27	chr5:118608400-118611200	Enhancers	A549	lung
28	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:118608800-118610600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:118608800-118610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:118608800-118610600	Enhancers	Aorta	Aorta
33	chr5:118608800-118610600	Enhancers	HepG2	liver
34	chr5:118608800-118610800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:118608800-118610800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr5:118608800-118611000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:118608800-118611200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr5:118608800-118611200	Enhancers	Fetal Intestine Small	intestine
39	chr5:118608800-118612000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:118609000-118610600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:118609000-118610600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr5:118609000-118611200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:118609000-118611200	Enhancers	Esophagus	oesophagus
44	chr5:118609000-118611400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:118609000-118611400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:118609200-118610400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:118609200-118611200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:118609200-118611400	Enhancers	Fetal Intestine Large	intestine
49	chr5:118609200-118612600	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:118609400-118610400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood

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