Variant report

Variant	esv2762697
Chromosome Location	chr7:111983278-111988953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111988628..111990958-chr7:112088614..112090854,2	MCF-7	breast:
2	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:
3	chr7:111986864..111991026-chr7:112090313..112092457,3	MCF-7	breast:
4	chr7:111977500..111980295-chr7:111984843..111986520,2	K562	blood:
5	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:
6	chr7:111981020..111983369-chr7:111995911..111998371,2	MCF-7	breast:
7	chr7:111982916..111985880-chr7:111989635..111992335,2	K562	blood:

Variant related genes	Relation type
ENSG00000198839	chromatin interactions
ENSG00000226851	chromatin interactions
ENSG00000006652	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1047551	chr7:111983278-111983279	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368964744	chr7:111983330-111983331	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564036260	chr7:111983421-111983422	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531290914	chr7:111983562-111983563	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549559581	chr7:111983582-111983583	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185200941	chr7:111983614-111983615	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529187438	chr7:111983675-111983676	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547169758	chr7:111983708-111983709	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115344679	chr7:111983716-111983717	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376388455	chr7:111983745-111983746	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190197861	chr7:111983747-111983748	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564740107	chr7:111983796-111983797	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570052876	chr7:111983847-111983848	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537449163	chr7:111983853-111983854	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544328604	chr7:111983896-111983897	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34118662	chr7:111983927-111983928	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574259588	chr7:111983947-111983948	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533681296	chr7:111983953-111983954	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535344897	chr7:111983990-111983991	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75155013	chr7:111984004-111984005	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58956925	chr7:111984006-111984007	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182322958	chr7:111984067-111984068	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535367921	chr7:111984089-111984090	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186365640	chr7:111984117-111984118	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578188291	chr7:111984120-111984121	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552158554	chr7:111984121-111984122	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60317474	chr7:111984211-111984212	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562522356	chr7:111984227-111984228	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188417024	chr7:111984371-111984372	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60677549	chr7:111984384-111984385	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75856698	chr7:111984427-111984428	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570567105	chr7:111984461-111984462	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528876904	chr7:111984483-111984484	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540895543	chr7:111984516-111984517	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559234690	chr7:111984522-111984523	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532917324	chr7:111984535-111984536	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539379734	chr7:111984546-111984547	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551335261	chr7:111984576-111984577	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6971021	chr7:111984579-111984580	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6970738	chr7:111984583-111984584	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138634547	chr7:111984588-111984589	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370161674	chr7:111984590-111984591	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535025256	chr7:111984632-111984633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547586408	chr7:111984635-111984636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142682348	chr7:111984643-111984644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570373794	chr7:111984699-111984700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577814407	chr7:111984748-111984749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368973986	chr7:111984762-111984763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62473152	chr7:111984763-111984764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78670197	chr7:111984765-111984766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
3	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
6	chr7:111961800-111986000	Weak transcription	K562	blood
7	chr7:111963800-111984400	Weak transcription	HMEC	breast
8	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
11	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
12	chr7:111966000-111989600	Weak transcription	Gastric	stomach
13	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
14	chr7:111966600-111984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:111967600-111983600	Weak transcription	Pancreas	Pancrea
18	chr7:111967600-111986800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:111968400-111985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:111969400-111985400	Strong transcription	Dnd41	blood
21	chr7:111971000-111984000	Strong transcription	Primary T cells from cord blood	blood
22	chr7:111973400-111984400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:111974600-111985400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:111974800-111985000	Strong transcription	Liver	Liver
25	chr7:111975400-111984400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:111977400-111983400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:111977400-111984400	Strong transcription	Adipose Nuclei	Adipose
28	chr7:111977600-111983800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:111977600-111983800	Strong transcription	Fetal Thymus	thymus
30	chr7:111977600-111984400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:111977800-111983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:111977800-111985400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:111977800-111986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:111978000-111984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:111978000-111984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:111978200-111984200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:111978200-111986000	Strong transcription	Left Ventricle	heart
39	chr7:111978400-111983800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:111978400-111987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:111978400-111989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:111978400-111990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:111978400-111990400	Weak transcription	Brain Germinal Matrix	brain
44	chr7:111978600-111986600	Weak transcription	Lung	lung
45	chr7:111978600-111990400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:111978800-111983800	Strong transcription	HSMM	muscle
47	chr7:111978800-111984000	Weak transcription	Psoas Muscle	Psoas
48	chr7:111979000-111984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:111979400-111985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:111979800-111983800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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