Variant report

Variant	esv3449421
Chromosome Location	chr7:5488076-5490174
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5481781..5483305-chr7:5487819..5490251,2	MCF-7	breast:
2	chr7:5480168..5484767-chr7:5488147..5491979,5	MCF-7	breast:
3	chr7:5279882..5280566-chr7:5490006..5490720,2	MCF-7	breast:
4	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:
5	chr7:5458158..5461530-chr7:5488359..5490865,4	MCF-7	breast:
6	chr7:5451316..5453787-chr7:5489844..5491700,2	MCF-7	breast:
7	chr7:5464891..5467567-chr7:5488157..5489750,2	K562	blood:
8	chr7:5405670..5407780-chr7:5489083..5491662,3	MCF-7	breast:
9	chr7:5405773..5406438-chr7:5490018..5490981,3	K562	blood:
10	chr7:5279507..5280369-chr7:5490006..5490934,6	MCF-7	breast:
11	chr7:5483353..5485157-chr7:5489176..5491820,2	K562	blood:
12	chr7:5489264..5491081-chr7:5494602..5496452,2	MCF-7	breast:
13	chr7:5463779..5472786-chr7:5487740..5494468,14	MCF-7	breast:
14	chr7:5460548..5470879-chr7:5485628..5502297,36	K562	blood:
15	chr7:5489179..5492667-chr7:5495464..5498343,3	K562	blood:
16	chr7:5479996..5482782-chr7:5485785..5488364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234432	chromatin interactions
ENSG00000188365	chromatin interactions
ENSG00000272953	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000241269	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34708501	chr7:5488089-5488090	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558766561	chr7:5488125-5488126	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs368733708	chr7:5488212-5488213	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs13228277	chr7:5488255-5488256	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529015750	chr7:5488271-5488272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543957809	chr7:5488273-5488274	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562630950	chr7:5488287-5488288	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs143083702	chr7:5488320-5488321	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs58103519	chr7:5488379-5488380	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78941506	chr7:5488398-5488399	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs79671131	chr7:5488425-5488426	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs372467069	chr7:5488432-5488433	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs552091897	chr7:5488457-5488458	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs570536075	chr7:5488481-5488482	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs538069250	chr7:5488486-5488487	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs189470387	chr7:5488526-5488527	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs141760638	chr7:5488556-5488557	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs35712887	chr7:5488634-5488635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs535962151	chr7:5488653-5488654	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs554160571	chr7:5488680-5488681	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs543880177	chr7:5488683-5488684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs562388460	chr7:5488736-5488737	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs546511332	chr7:5488759-5488760	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs150576985	chr7:5488769-5488770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs56203530	chr7:5488812-5488813	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs72403351	chr7:5488819-5488820	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs372744057	chr7:5488837-5488838	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs543971503	chr7:5488839-5488840	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs55992905	chr7:5488847-5488848	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs56125385	chr7:5488849-5488850	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs71536918	chr7:5488853-5488854	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs78484875	chr7:5488854-5488855	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs374221939	chr7:5488863-5488864	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs377633733	chr7:5488865-5488866	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs192306771	chr7:5488866-5488867	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs185854801	chr7:5488868-5488869	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs57304748	chr7:5488870-5488871	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs78202654	chr7:5488875-5488876	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs79437590	chr7:5488877-5488878	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs76416999	chr7:5488879-5488880	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs77092692	chr7:5488880-5488881	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs376214577	chr7:5488881-5488882	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs375415051	chr7:5488883-5488884	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs374665905	chr7:5488884-5488885	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs57925654	chr7:5488894-5488895	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs527321602	chr7:5488898-5488899	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs9639998	chr7:5488900-5488901	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs370152199	chr7:5488913-5488914	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs370889071	chr7:5488914-5488915	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs374341841	chr7:5488943-5488944	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
3	chr7:5473200-5491200	Weak transcription	Hela-S3	cervix
4	chr7:5473200-5497200	Weak transcription	Right Ventricle	heart
5	chr7:5480000-5490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:5483400-5490000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:5483600-5489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:5483800-5488200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:5483800-5490800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:5484000-5490200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:5484000-5491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:5485600-5489400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:5486000-5490200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:5486000-5490600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:5486200-5488200	Weak transcription	Fetal Brain Male	brain
16	chr7:5486200-5490200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:5486200-5490200	Weak transcription	Stomach Mucosa	stomach
18	chr7:5486400-5490200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:5486400-5490600	Weak transcription	A549	lung
20	chr7:5486600-5488200	Weak transcription	Fetal Thymus	thymus
21	chr7:5486600-5490200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:5486600-5490200	Weak transcription	Fetal Intestine Large	intestine
23	chr7:5486600-5490200	Weak transcription	Fetal Intestine Small	intestine
24	chr7:5486600-5490400	Weak transcription	Ovary	ovary
25	chr7:5486600-5491200	Weak transcription	Spleen	Spleen
26	chr7:5486600-5497200	Weak transcription	Lung	lung
27	chr7:5486800-5488400	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:5486800-5490000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:5487200-5488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:5487400-5488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:5487400-5489400	Enhancers	Placenta	Placenta
32	chr7:5487600-5488600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:5487600-5488800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:5487600-5488800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:5487600-5488800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5487600-5488800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:5487600-5488800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:5487600-5488800	Enhancers	Brain Germinal Matrix	brain
39	chr7:5487600-5489400	Enhancers	Esophagus	oesophagus
40	chr7:5487600-5490200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:5487800-5488800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:5487800-5488800	Enhancers	HMEC	breast
43	chr7:5487800-5495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:5488000-5488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:5488000-5488200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:5488000-5488400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:5488000-5488400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:5488000-5488400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr7:5488000-5488400	Weak transcription	Fetal Brain Female	brain
50	chr7:5488000-5488600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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