Variant report

Variant	esv3384346
Chromosome Location	chr7:112031712-112032184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112023462..112026199-chr7:112030712..112034136,5	MCF-7	breast:
2	chr7:111857821..111859574-chr7:112030551..112032739,2	MCF-7	breast:
3	chr7:111844038..111847203-chr7:112030805..112032804,3	MCF-7	breast:
4	chr7:112029526..112032512-chr7:112089416..112091655,2	K562	blood:
5	chr7:112031184..112032769-chr7:112035283..112037253,2	MCF-7	breast:
6	chr7:112032001..112033811-chr7:112035670..112039221,3	MCF-7	breast:
7	chr7:112030505..112033411-chr7:112090112..112091685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	chromatin interactions
ENSG00000128512	chromatin interactions
ENSG00000198839	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112316981	chr7:112031736-112031737	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs532492306	chr7:112031744-112031745	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113899461	chr7:112031814-112031815	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372299236	chr7:112031860-112031861	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs34404435	chr7:112031894-112031895	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113137523	chr7:112031964-112031965	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530397254	chr7:112032002-112032003	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111633737	chr7:112032015-112032016	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs369708871	chr7:112032022-112032023	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112737640	chr7:112032025-112032026	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567322925	chr7:112032026-112032027	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536350063	chr7:112032028-112032029	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546756354	chr7:112032034-112032035	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs372080173	chr7:112032048-112032049	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566654599	chr7:112032054-112032055	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375402527	chr7:112032068-112032069	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538853427	chr7:112032073-112032074	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558541602	chr7:112032104-112032105	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs575507579	chr7:112032115-112032116	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537808013	chr7:112032126-112032127	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs111787147	chr7:112032130-112032131	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550516049	chr7:112032132-112032133	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562552172	chr7:112032133-112032134	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530411025	chr7:112032137-112032138	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs548651255	chr7:112032142-112032143	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112027000-112032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112030800-112032200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:112030800-112032200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr7:112030800-112032200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:112030800-112032200	Active TSS	Hela-S3	cervix
6	chr7:112030800-112032400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:112030800-112032600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:112031000-112032000	Active TSS	Primary T cells fromperipheralblood	blood
9	chr7:112031000-112032000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:112031000-112032200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:112031000-112032200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:112031000-112032200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:112031000-112032200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:112031000-112032200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:112031000-112032200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:112031000-112032200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:112031000-112032200	Active TSS	Primary B cells from cord blood	blood
18	chr7:112031000-112032200	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:112031000-112032200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:112031000-112032200	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:112031000-112032200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:112031000-112032200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr7:112031000-112032200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr7:112031000-112032200	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr7:112031000-112032200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:112031000-112032200	Active TSS	Brain Angular Gyrus	brain
27	chr7:112031000-112032200	Active TSS	Brain Anterior Caudate	brain
28	chr7:112031000-112032200	Active TSS	Brain Germinal Matrix	brain
29	chr7:112031000-112032200	Active TSS	Brain Hippocampus Middle	brain
30	chr7:112031000-112032200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:112031000-112032200	Active TSS	Duodenum Mucosa	Duodenum
32	chr7:112031000-112032200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr7:112031000-112032200	Active TSS	Fetal Muscle Leg	muscle
34	chr7:112031000-112032200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:112031000-112032200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:112031000-112032200	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:112031000-112032200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr7:112031000-112032200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:112031000-112032200	Active TSS	GM12878-XiMat	blood
40	chr7:112031000-112032200	Active TSS	HMEC	breast
41	chr7:112031000-112032200	Active TSS	NH-A	brain
42	chr7:112031000-112032200	Active TSS	NHEK	skin
43	chr7:112031000-112032200	Active TSS	Osteobl	bone
44	chr7:112031000-112032400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:112031000-112032400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:112031000-112032400	Active TSS	Fetal Brain Female	brain
47	chr7:112031000-112032400	Active TSS	Fetal Lung	lung
48	chr7:112031000-112032400	Active TSS	Psoas Muscle	Psoas
49	chr7:112031000-112032400	Active TSS	Stomach Smooth Muscle	stomach
50	chr7:112031000-112032400	Weak transcription	Spleen	Spleen

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