Variant report

Variant	esv3438007
Chromosome Location	chr7:47516227-47520525
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:47511421..47516767-chr7:47612784..47619137,7	MCF-7	breast:
2	chr7:47515059..47516604-chr7:47518926..47522431,3	MCF-7	breast:
3	chr7:47511004..47513393-chr7:47517633..47520191,2	MCF-7	breast:
4	chr7:47516967..47517534-chr7:47581655..47582321,2	MCF-7	breast:
5	chr7:47492047..47494387-chr7:47514558..47516950,2	MCF-7	breast:
6	chr7:47514590..47517404-chr7:47552002..47553960,2	MCF-7	breast:
7	chr7:47479187..47480872-chr7:47514884..47516751,2	MCF-7	breast:
8	chr7:47495011..47497603-chr7:47513811..47516327,2	MCF-7	breast:
9	chr7:47516756..47518483-chr7:47673724..47676288,2	MCF-7	breast:
10	chr7:47514022..47520135-chr7:47620421..47623304,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs183738980	chr7:47516227-47516228	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188316153	chr7:47516239-47516240	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553712986	chr7:47516240-47516241	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs193281524	chr7:47516254-47516255	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558131252	chr7:47516271-47516272	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77224513	chr7:47516289-47516290	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148482857	chr7:47516303-47516304	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114104126	chr7:47516413-47516414	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142650453	chr7:47516417-47516418	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368834826	chr7:47516419-47516420	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564961660	chr7:47516444-47516445	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145944502	chr7:47516475-47516476	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547084797	chr7:47516477-47516478	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540935968	chr7:47516508-47516509	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561189353	chr7:47516571-47516572	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530070234	chr7:47516591-47516592	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550209912	chr7:47516602-47516603	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570155640	chr7:47516612-47516613	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532699092	chr7:47516621-47516622	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561047699	chr7:47516650-47516651	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531765319	chr7:47516654-47516655	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117088009	chr7:47516724-47516725	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554933392	chr7:47516725-47516726	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568414072	chr7:47516740-47516741	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535803336	chr7:47516769-47516770	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139798173	chr7:47516845-47516846	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575711999	chr7:47516867-47516868	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184900560	chr7:47516891-47516892	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529287591	chr7:47516898-47516899	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558637439	chr7:47516907-47516908	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78568130	chr7:47516956-47516957	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541224506	chr7:47516986-47516987	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371202780	chr7:47517003-47517004	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561126159	chr7:47517005-47517006	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186948103	chr7:47517014-47517015	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555714809	chr7:47517015-47517016	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143299137	chr7:47517026-47517027	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191459198	chr7:47517039-47517040	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146690597	chr7:47517068-47517069	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183603964	chr7:47517090-47517091	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569534345	chr7:47517174-47517175	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528627548	chr7:47517185-47517186	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs80317525	chr7:47517191-47517192	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189924303	chr7:47517243-47517244	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369399805	chr7:47517318-47517319	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537378688	chr7:47517326-47517327	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549352995	chr7:47517334-47517335	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569278912	chr7:47517367-47517368	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373025177	chr7:47517386-47517387	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141370029	chr7:47517421-47517422	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Myxofibrosarcoma	20639860	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47480400-47534000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:47510800-47516400	Enhancers	Gastric	stomach
3	chr7:47511000-47517600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:47511800-47522000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:47512800-47530000	Enhancers	Placenta	Placenta
6	chr7:47513000-47521000	Enhancers	Fetal Heart	heart
7	chr7:47513600-47517200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:47513600-47517200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:47513600-47519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:47513600-47522600	Enhancers	Ovary	ovary
11	chr7:47513600-47523000	Enhancers	Adipose Nuclei	Adipose
12	chr7:47513600-47526400	Enhancers	Liver	Liver
13	chr7:47513800-47517800	Enhancers	Lung	lung
14	chr7:47513800-47518000	Enhancers	Right Atrium	heart
15	chr7:47513800-47519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:47513800-47522600	Enhancers	Small Intestine	intestine
17	chr7:47513800-47522600	Enhancers	Spleen	Spleen
18	chr7:47513800-47526200	Enhancers	Right Ventricle	heart
19	chr7:47514000-47517200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:47514000-47526000	Enhancers	Left Ventricle	heart
21	chr7:47514200-47519600	Weak transcription	Fetal Brain Male	brain
22	chr7:47514200-47519800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:47514200-47521200	Enhancers	Osteobl	bone
24	chr7:47514200-47524200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:47514400-47524800	Enhancers	Primary hematopoietic stem cells	blood
26	chr7:47514800-47516800	Genic enhancers	NHLF	lung
27	chr7:47514800-47517400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr7:47514800-47518000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:47514800-47519800	Enhancers	Fetal Lung	lung
30	chr7:47514800-47528400	Enhancers	Stomach Mucosa	stomach
31	chr7:47514800-47528800	Enhancers	Pancreas	Pancrea
32	chr7:47515000-47516400	Enhancers	Fetal Kidney	kidney
33	chr7:47515000-47529800	Genic enhancers	Fetal Intestine Small	intestine
34	chr7:47515200-47516400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:47515200-47516800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:47515200-47517000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:47515200-47517600	Weak transcription	Fetal Thymus	thymus
38	chr7:47515200-47518000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:47515400-47516400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:47515400-47516400	Enhancers	Colonic Mucosa	Colon
41	chr7:47515400-47516600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:47515400-47517200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:47515400-47517400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:47515400-47517400	Weak transcription	Psoas Muscle	Psoas
45	chr7:47515400-47518400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:47515400-47518800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:47515400-47519800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:47515400-47520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:47515400-47520000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:47515400-47520400	Weak transcription	Rectal Smooth Muscle	rectum

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