Variant report

Variant	nsv1032844
Chromosome Location	chr7:112908715-112950335
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
2	chr7:112799513..112800054-chr7:112929337..112929871,2	MCF-7	breast:
3	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
4	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
5	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
6	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
7	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
8	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
9	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
10	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
11	chr7:112089237..112091482-chr7:112936057..112938859,2	MCF-7	breast:
12	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
13	chr7:112811150..112812144-chr7:112920712..112921503,2	MCF-7	breast:
14	chr7:112811148..112812106-chr7:112921056..112921827,2	MCF-7	breast:
15	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
16	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
17	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
18	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
19	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
20	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
21	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
22	chr7:112809313..112813953-chr7:112918870..112922668,5	MCF-7	breast:
23	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
24	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
25	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
26	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
27	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions

Extended variants
information (count: 759 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6980273	chr7:112908715-112908716	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543604524	chr7:112908726-112908727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531959808	chr7:112908728-112908729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550542342	chr7:112908738-112908739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116643201	chr7:112908776-112908777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6466440	chr7:112908788-112908789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs149747222	chr7:112908818-112908819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189707789	chr7:112908842-112908843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs535297657	chr7:112908853-112908854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs180772294	chr7:112908897-112908898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs569744822	chr7:112908915-112908916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530963072	chr7:112909005-112909006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529793076	chr7:112909024-112909025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114655617	chr7:112909070-112909071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34814330	chr7:112909084-112909085	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535019993	chr7:112909085-112909086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186027802	chr7:112909096-112909097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566591026	chr7:112909097-112909098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539040386	chr7:112909115-112909116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117720813	chr7:112909122-112909123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567694370	chr7:112909125-112909126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565455273	chr7:112909145-112909146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575738219	chr7:112909151-112909152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190743041	chr7:112909164-112909165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540007211	chr7:112909212-112909213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183262889	chr7:112909213-112909214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74996571	chr7:112909234-112909235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145310576	chr7:112909279-112909280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559699547	chr7:112909332-112909333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532749683	chr7:112909333-112909334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544993802	chr7:112909362-112909363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563236998	chr7:112909363-112909364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs186449482	chr7:112909367-112909368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115213219	chr7:112909386-112909387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371373722	chr7:112909388-112909389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567549060	chr7:112909401-112909402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs137953909	chr7:112909402-112909403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546855974	chr7:112909403-112909404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140778232	chr7:112909419-112909420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200784809	chr7:112909432-112909433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190455242	chr7:112909450-112909451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183570458	chr7:112909457-112909458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs117012978	chr7:112909522-112909523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577614547	chr7:112909548-112909549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188167659	chr7:112909549-112909550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143052279	chr7:112909550-112909551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537783483	chr7:112909595-112909596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541235149	chr7:112909598-112909599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553259143	chr7:112909599-112909600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554176111	chr7:112910802-112910803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112907800-112909600	ZNF genes & repeats	K562	blood
2	chr7:112908400-112909400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:112910800-112912400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:112917600-112917800	Enhancers	Fetal Heart	heart
5	chr7:112917800-112918600	Weak transcription	Fetal Heart	heart
6	chr7:112918600-112921400	Enhancers	Fetal Heart	heart
7	chr7:112918800-112919400	Enhancers	Colon Smooth Muscle	Colon
8	chr7:112919000-112919600	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:112919200-112919600	Enhancers	Fetal Brain Male	brain
10	chr7:112919200-112919600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:112919600-112923200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:112921400-112923400	Weak transcription	Fetal Heart	heart
13	chr7:112923200-112923600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:112923400-112924200	Enhancers	Fetal Heart	heart
15	chr7:112923600-112924400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:112923600-112926600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:112923800-112924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:112924200-112924400	Enhancers	Osteobl	bone
19	chr7:112924200-112924600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:112924200-112924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:112924400-112925400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:112924400-112925400	Weak transcription	Osteobl	bone
23	chr7:112924600-112926000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:112924800-112925200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:112925200-112926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:112925400-112926000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:112925400-112926200	Enhancers	Osteobl	bone
28	chr7:112929400-112929600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:112931200-112931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:112931200-112932000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:112931400-112931600	Enhancers	Esophagus	oesophagus
32	chr7:112931800-112932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:112932000-112932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:112932200-112932400	Enhancers	Esophagus	oesophagus
35	chr7:112932200-112932600	Enhancers	Adipose Nuclei	Adipose
36	chr7:112932200-112932800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:112932400-112932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:112932600-112934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:112934400-112935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:112935000-112935600	ZNF genes & repeats	Esophagus	oesophagus
41	chr7:112946200-112946800	Active TSS	K562	blood
42	chr7:112946800-112947400	Weak transcription	K562	blood
43	chr7:112947400-112948200	Enhancers	K562	blood
44	chr7:112948400-112948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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