Variant report

Variant	esv3476478
Chromosome Location	chr7:100341157-100343379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100330076..100331647-chr7:100341645..100343390,2	K562	blood:
2	chr7:100033824..100035649-chr7:100341389..100343074,2	K562	blood:

Variant related genes	Relation type
ENSG00000160813	chromatin interactions
ENSG00000146839	chromatin interactions
ENSG00000240211	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538967774	chr7:100341161-100341162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554121892	chr7:100341195-100341196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112297502	chr7:100341196-100341197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572116778	chr7:100341242-100341243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528569074	chr7:100341254-100341255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554326787	chr7:100341265-100341266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538278251	chr7:100341266-100341267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557071363	chr7:100341270-100341271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564567712	chr7:100341276-100341277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577107160	chr7:100341291-100341292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575445774	chr7:100341333-100341334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138384801	chr7:100341361-100341362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192603114	chr7:100341383-100341384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530190444	chr7:100341433-100341434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370668638	chr7:100341479-100341480	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563624694	chr7:100341481-100341482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531052536	chr7:100341491-100341492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145301524	chr7:100341512-100341513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183266780	chr7:100341527-100341528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373116051	chr7:100341591-100341592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76114240	chr7:100341636-100341637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186829013	chr7:100341641-100341642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141135391	chr7:100341643-100341644	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369615463	chr7:100341820-100341821	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs75269254	chr7:100341873-100341874	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371215702	chr7:100341898-100341899	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs111342940	chr7:100341901-100341902	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554795812	chr7:100341996-100341997	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs13231321	chr7:100342006-100342007	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs13231109	chr7:100342023-100342024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs137936183	chr7:100342024-100342025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs149495314	chr7:100342039-100342040	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs558248315	chr7:100342049-100342050	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs576404252	chr7:100342081-100342082	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs74710022	chr7:100342096-100342097	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559757679	chr7:100342114-100342115	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs575120449	chr7:100342118-100342119	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192532322	chr7:100342170-100342171	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs563938989	chr7:100342207-100342208	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs56366342	chr7:100342215-100342216	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs58583906	chr7:100342216-100342217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200283334	chr7:100342235-100342236	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564574024	chr7:100342285-100342286	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs528452856	chr7:100342410-100342411	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs67764878	chr7:100342492-100342493	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147306368	chr7:100342493-100342494	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201526012	chr7:100342500-100342501	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200606328	chr7:100342503-100342504	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs192667970	chr7:100342516-100342517	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs185408385	chr7:100342521-100342522	Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100340600-100342800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:100342000-100342400	Enhancers	Placenta	Placenta
4	chr7:100342400-100343000	Active TSS	Placenta	Placenta
5	chr7:100342600-100342800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:100342600-100342800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr7:100342600-100342800	Active TSS	Fetal Intestine Large	intestine
8	chr7:100342600-100342800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr7:100342600-100342800	Active TSS	Pancreas	Pancrea
10	chr7:100342600-100342800	Enhancers	Spleen	Spleen
11	chr7:100342600-100343000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:100342600-100343000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:100342600-100343000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:100342600-100343000	Active TSS	Esophagus	oesophagus
15	chr7:100342600-100343000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr7:100342600-100343200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:100342600-100343200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:100342600-100343200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
21	chr7:100342600-100343200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:100342600-100343200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:100342600-100343200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:100342600-100343200	Active TSS	Duodenum Mucosa	Duodenum
25	chr7:100342600-100343200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:100342600-100343200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
27	chr7:100342600-100343200	Active TSS	NHDF-Ad	bronchial
28	chr7:100342600-100343400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:100342600-100343400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:100342600-100343400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:100342600-100343400	Active TSS	Fetal Kidney	kidney
32	chr7:100342600-100343400	Active TSS	Fetal Lung	lung
33	chr7:100342600-100343400	Active TSS	Ovary	ovary
34	chr7:100342800-100343000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:100342800-100343000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:100342800-100343000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:100342800-100343000	Active TSS	Primary B cells from peripheral blood	blood
38	chr7:100342800-100343000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:100342800-100343000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:100342800-100343000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:100342800-100343000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:100342800-100343000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:100342800-100343000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:100342800-100343000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr7:100342800-100343000	Active TSS	Gastric	stomach
46	chr7:100342800-100343000	Active TSS	Lung	lung
47	chr7:100342800-100343000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:100342800-100343200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:100342800-100343200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:100342800-100343200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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