Variant report

Variant	esv3325611
Chromosome Location	chr7:112030791-112032839
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111844038..111847203-chr7:112030805..112032804,3	MCF-7	breast:
2	chr7:112029526..112032512-chr7:112089416..112091655,2	K562	blood:
3	chr7:111850231..111853782-chr7:112032412..112034689,3	MCF-7	breast:
4	chr7:112031184..112032769-chr7:112035283..112037253,2	MCF-7	breast:
5	chr7:112029372..112031621-chr7:112036798..112039526,2	MCF-7	breast:
6	chr7:112032001..112033811-chr7:112035670..112039221,3	MCF-7	breast:
7	chr7:111857821..111859574-chr7:112030551..112032739,2	MCF-7	breast:
8	chr7:112030505..112033411-chr7:112090112..112091685,2	MCF-7	breast:
9	chr7:112023462..112026199-chr7:112030712..112034136,5	MCF-7	breast:

No data

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

Extended variants
information (count: 81 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192307363	chr7:112030801-112030802	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113116572	chr7:112030909-112030910	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550577637	chr7:112030914-112030915	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs140975072	chr7:112030939-112030940	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544613473	chr7:112030941-112030942	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536548420	chr7:112030943-112030944	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs4730532	chr7:112030963-112030964	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566996587	chr7:112031088-112031089	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375525262	chr7:112031140-112031141	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553134405	chr7:112031248-112031249	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs182227213	chr7:112031258-112031259	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4730533	chr7:112031295-112031296	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557016020	chr7:112031316-112031317	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs115065249	chr7:112031363-112031364	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs186618161	chr7:112031378-112031379	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561127479	chr7:112031428-112031429	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528321731	chr7:112031457-112031458	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs10250178	chr7:112031470-112031471	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560312103	chr7:112031513-112031514	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs56008473	chr7:112031525-112031526	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374104184	chr7:112031528-112031529	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs77902190	chr7:112031554-112031555	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs113442713	chr7:112031574-112031575	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112104833	chr7:112031608-112031609	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs71529491	chr7:112031610-112031611	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532609814	chr7:112031617-112031618	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs55744218	chr7:112031637-112031638	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377527959	chr7:112031643-112031644	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs79637240	chr7:112031657-112031658	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs71529490	chr7:112031662-112031663	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs71561763	chr7:112031670-112031671	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs77539879	chr7:112031683-112031684	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs39497	chr7:112031696-112031697	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs112316981	chr7:112031736-112031737	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs532492306	chr7:112031744-112031745	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113899461	chr7:112031814-112031815	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs372299236	chr7:112031860-112031861	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs34404435	chr7:112031894-112031895	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113137523	chr7:112031964-112031965	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112024200-112031400	Weak transcription	Pancreas	Pancrea
2	chr7:112025400-112031400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:112027000-112032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:112027200-112031000	Weak transcription	Fetal Kidney	kidney
5	chr7:112027400-112030800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:112027400-112030800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:112030600-112030800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:112030600-112030800	Enhancers	Dnd41	blood
9	chr7:112030600-112031000	Enhancers	Psoas Muscle	Psoas
10	chr7:112030600-112031000	Enhancers	Spleen	Spleen
11	chr7:112030800-112031000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:112030800-112031000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:112030800-112031000	Enhancers	Fetal Intestine Large	intestine
14	chr7:112030800-112031000	Enhancers	Fetal Intestine Small	intestine
15	chr7:112030800-112031000	Enhancers	HepG2	liver
16	chr7:112030800-112031200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr7:112030800-112031200	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:112030800-112031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:112030800-112031400	Flanking Active TSS	Dnd41	blood
20	chr7:112030800-112031600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:112030800-112032200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:112030800-112032200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:112030800-112032200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:112030800-112032200	Active TSS	Hela-S3	cervix
25	chr7:112030800-112032400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr7:112030800-112032600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:112031000-112031200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr7:112031000-112031200	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:112031000-112031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:112031000-112031200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:112031000-112031200	Enhancers	Liver	Liver
32	chr7:112031000-112031200	Enhancers	Fetal Brain Male	brain
33	chr7:112031000-112031200	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr7:112031000-112031200	Flanking Active TSS	HepG2	liver
35	chr7:112031000-112031200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr7:112031000-112031400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr7:112031000-112031400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:112031000-112031400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr7:112031000-112031400	Enhancers	Fetal Kidney	kidney
40	chr7:112031000-112032000	Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:112031000-112032000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:112031000-112032200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:112031000-112032200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:112031000-112032200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:112031000-112032200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:112031000-112032200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:112031000-112032200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:112031000-112032200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:112031000-112032200	Active TSS	Primary B cells from cord blood	blood
50	chr7:112031000-112032200	Active TSS	Primary T helper naive cells from peripheral blood	blood

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