Variant report

Variant	esv3395027
Chromosome Location	chr7:4839476-4842174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4841618..4843428-chr7:4844749..4846501,2	K562	blood:
2	chr7:4837975..4839568-chr7:4857330..4858935,2	MCF-7	breast:
3	chr7:4834373..4836925-chr7:4840140..4842359,2	K562	blood:
4	chr7:4828401..4832334-chr7:4833840..4840039,6	MCF-7	breast:
5	chr7:4838244..4841077-chr7:4873411..4874965,2	MCF-7	breast:
6	chr7:4837705..4840224-chr7:4921777..4925523,3	K562	blood:
7	chr7:4840473..4842887-chr7:4862690..4864291,2	K562	blood:

Variant related genes	Relation type
ENSG00000157927	chromatin interactions
ENSG00000242802	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547544628	chr7:4839495-4839496	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559773615	chr7:4839496-4839497	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533508014	chr7:4839502-4839503	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6963755	chr7:4839522-4839523	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75154011	chr7:4839524-4839525	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537701483	chr7:4839531-4839532	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2306920	chr7:4839532-4839533	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567935201	chr7:4839533-4839534	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200848143	chr7:4839624-4839625	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189167391	chr7:4839636-4839637	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553522877	chr7:4839637-4839638	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571798574	chr7:4839646-4839647	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539193664	chr7:4839660-4839661	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557483911	chr7:4839663-4839664	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369854973	chr7:4839669-4839670	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34397337	chr7:4839680-4839681	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575841613	chr7:4839687-4839688	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536483066	chr7:4839696-4839697	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562034222	chr7:4839713-4839714	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538479195	chr7:4839729-4839730	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573878672	chr7:4839730-4839731	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371413261	chr7:4839752-4839753	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559537619	chr7:4839765-4839766	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576251793	chr7:4839768-4839769	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374506286	chr7:4839771-4839772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368420841	chr7:4839775-4839776	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148833448	chr7:4839777-4839778	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374124151	chr7:4839778-4839779	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3816855	chr7:4839781-4839782	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6977412	chr7:4839784-4839785	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549339495	chr7:4839786-4839787	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567933960	chr7:4839793-4839794	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs115606188	chr7:4839808-4839809	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs78680621	chr7:4839810-4839811	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369297672	chr7:4839811-4839812	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539104973	chr7:4839813-4839814	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369962896	chr7:4839828-4839829	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143487303	chr7:4839832-4839833	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201913652	chr7:4839837-4839838	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373238489	chr7:4839856-4839857	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200317956	chr7:4839857-4839858	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs137943646	chr7:4839864-4839865	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201603574	chr7:4839874-4839875	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377564806	chr7:4839880-4839881	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs3816854	chr7:4839882-4839883	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372662114	chr7:4839888-4839889	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181502894	chr7:4839893-4839894	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200704658	chr7:4839894-4839895	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374046773	chr7:4839897-4839898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200001275	chr7:4839909-4839910	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Glioblastoma multiforme	21525872	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4826200-4843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:4832200-4847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:4832400-4857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
5	chr7:4832600-4839800	Weak transcription	Gastric	stomach
6	chr7:4832800-4839600	Weak transcription	Pancreas	Pancrea
7	chr7:4832800-4840600	Weak transcription	Spleen	Spleen
8	chr7:4832800-4843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:4832800-4847400	Weak transcription	Fetal Brain Male	brain
10	chr7:4832800-4852600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:4833000-4840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:4833000-4843400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:4833000-4844800	Weak transcription	Lung	lung
14	chr7:4834800-4839600	Weak transcription	K562	blood
15	chr7:4834800-4840000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:4834800-4840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4834800-4843400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:4834800-4849400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:4835800-4839800	Enhancers	Fetal Heart	heart
21	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:4837400-4840400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:4837400-4850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:4838200-4840200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:4838200-4840600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:4838200-4840600	Weak transcription	Ovary	ovary
27	chr7:4838200-4854200	Weak transcription	Right Ventricle	heart
28	chr7:4838400-4839800	Strong transcription	Fetal Stomach	stomach
29	chr7:4838400-4841600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:4838400-4843000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:4838400-4846800	Weak transcription	Brain Substantia Nigra	brain
32	chr7:4838400-4859800	Weak transcription	Left Ventricle	heart
33	chr7:4838600-4839600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:4838600-4839800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:4838800-4840400	Enhancers	Fetal Muscle Leg	muscle
36	chr7:4838800-4841200	Strong transcription	Fetal Brain Female	brain
37	chr7:4838800-4849400	Weak transcription	Fetal Lung	lung
38	chr7:4839200-4839600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:4839200-4839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:4839200-4840200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:4839400-4839600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:4839400-4839600	Enhancers	Psoas Muscle	Psoas
43	chr7:4839400-4839800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:4839400-4839800	Enhancers	Adipose Nuclei	Adipose
45	chr7:4839400-4840000	Enhancers	HMEC	breast
46	chr7:4839400-4840400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr7:4839400-4840600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:4839400-4840800	Weak transcription	Thymus	Thymus
49	chr7:4839600-4839800	Enhancers	Pancreas	Pancrea
50	chr7:4839600-4839800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links