Variant report

Variant	nsv889050
Chromosome Location	chr7:111265262-111339228
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111201366..111203605-chr7:111282980..111284913,2	K562	blood:
2	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
3	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
4	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
5	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
6	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
7	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:
8	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
9	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
10	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
11	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
12	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
13	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
14	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
15	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
16	chr7:111198400..111201071-chr7:111297443..111299093,2	K562	blood:
17	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
18	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
19	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
20	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
21	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
22	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
23	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
24	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
25	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
26	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
27	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
28	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
29	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
30	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184903	chromatin interactions

Extended variants
information (count: 1820 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1820 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185570290	chr7:111274410-111274411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542407899	chr7:111274413-111274414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113141691	chr7:111274434-111274435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560699863	chr7:111274476-111274477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528296291	chr7:111274487-111274488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371676092	chr7:111274521-111274522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6959245	chr7:111274527-111274528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571537822	chr7:111274636-111274637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532380036	chr7:111274665-111274666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368965968	chr7:111274775-111274776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546987719	chr7:111274794-111274795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551027817	chr7:111274798-111274799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569364713	chr7:111274821-111274822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546816551	chr7:111274834-111274835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536698503	chr7:111274840-111274841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73428385	chr7:111274994-111274995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545908780	chr7:111278039-111278040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374861153	chr7:111278054-111278055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80154429	chr7:111278132-111278133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531452063	chr7:111278142-111278143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147571779	chr7:111278158-111278159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368924115	chr7:111278230-111278231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548041342	chr7:111278243-111278244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149212773	chr7:111278250-111278251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79709265	chr7:111278276-111278277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555795388	chr7:111278282-111278283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76746594	chr7:111278291-111278292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148348986	chr7:111278326-111278327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368427624	chr7:111278376-111278377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78929943	chr7:111278381-111278382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541406498	chr7:111278382-111278383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74881019	chr7:111278386-111278387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11978935	chr7:111278445-111278446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192148948	chr7:111278458-111278459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539813075	chr7:111278463-111278464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114979505	chr7:111278489-111278490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180949344	chr7:111278532-111278533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79449753	chr7:111278589-111278590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35338300	chr7:111278646-111278647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185181499	chr7:111278647-111278648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574155417	chr7:111278664-111278665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541296984	chr7:111278667-111278668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145668020	chr7:111278670-111278671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533501082	chr7:111278685-111278686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552103470	chr7:111278708-111278709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564027568	chr7:111278713-111278714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539451391	chr7:111278726-111278727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565482481	chr7:111278727-111278728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549877645	chr7:111278745-111278746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200742236	chr7:111278750-111278751	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	21509527	CNVD
Autism	20841430	CNVD
Autism	20685689	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111274400-111275000	Enhancers	Fetal Kidney	kidney
2	chr7:111278000-111279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:111278200-111278400	Enhancers	Fetal Stomach	stomach
4	chr7:111278400-111278800	Enhancers	Fetal Lung	lung
5	chr7:111278800-111280200	Weak transcription	Fetal Lung	lung
6	chr7:111279000-111279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:111279400-111280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:111280000-111280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:111280200-111280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:111280200-111280400	Enhancers	Fetal Lung	lung
11	chr7:111280400-111281200	Enhancers	Fetal Stomach	stomach
12	chr7:111282400-111282800	Enhancers	Spleen	Spleen
13	chr7:111287800-111288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:111288000-111288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:111288000-111288200	Enhancers	A549	lung
16	chr7:111288000-111288400	Enhancers	NHDF-Ad	bronchial
17	chr7:111288400-111289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:111288400-111290400	Weak transcription	NHDF-Ad	bronchial
19	chr7:111288600-111289800	Weak transcription	A549	lung
20	chr7:111289600-111289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:111289600-111290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:111289800-111290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:111289800-111290400	Enhancers	A549	lung
24	chr7:111290200-111291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:111290400-111290800	Enhancers	Fetal Stomach	stomach
26	chr7:111290400-111290800	Enhancers	NHDF-Ad	bronchial
27	chr7:111290400-111291000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:111290400-111291000	Enhancers	Colon Smooth Muscle	Colon
29	chr7:111290400-111291000	Enhancers	Fetal Lung	lung
30	chr7:111290400-111291000	Enhancers	Stomach Mucosa	stomach
31	chr7:111290400-111291000	Enhancers	HepG2	liver
32	chr7:111290400-111291400	Flanking Active TSS	A549	lung
33	chr7:111290600-111291000	Enhancers	Fetal Muscle Leg	muscle
34	chr7:111290600-111291000	Enhancers	Dnd41	blood
35	chr7:111290600-111291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:111290800-111294200	Weak transcription	NHDF-Ad	bronchial
37	chr7:111291000-111291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:111291000-111303400	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:111291400-111292200	Enhancers	A549	lung
40	chr7:111291400-111294200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:111291600-111291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:111291600-111294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:111294000-111295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:111294200-111294600	Enhancers	NHDF-Ad	bronchial
45	chr7:111294200-111295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:111296400-111296800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:111299000-111299800	Enhancers	Stomach Mucosa	stomach
48	chr7:111302000-111303000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:111302400-111302600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:111302400-111302800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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