Variant report

Variant	nsv970570
Chromosome Location	chr7:108204432-108205276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:108204536-108204683	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:108204607-108204736	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:108204757-108204760	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:108204546-108204602	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:108199426-108221976	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
2	chr7:108204810..108207831-chr7:108207857..108211042,6	MCF-7	breast:
3	chr7:108202468..108204754-chr7:108208486..108210281,2	MCF-7	breast:
4	chr7:108191362..108206184-chr7:108206645..108216261,27	K562	blood:
5	chr7:108166428..108168148-chr7:108205249..108207059,2	K562	blood:
6	chr7:108200654..108204288-chr7:108205009..108207830,4	MCF-7	breast:

No data

Variant related genes	Relation type
DNAJB9	TF binding region
ENSG00000135241	chromatin interactions
ENSG00000128590	chromatin interactions
ENSG00000177683	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565600210	chr7:108204453-108204454	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs183420038	chr7:108204459-108204460	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs40943	chr7:108204479-108204480	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs560824069	chr7:108204481-108204482	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567703186	chr7:108204502-108204503	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs187797610	chr7:108204510-108204511	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549818055	chr7:108204548-108204549	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563355182	chr7:108204574-108204575	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373107299	chr7:108204581-108204582	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532373353	chr7:108204583-108204584	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552067216	chr7:108204597-108204598	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150538659	chr7:108204653-108204654	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565686754	chr7:108204660-108204661	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139439083	chr7:108204676-108204677	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376202340	chr7:108204685-108204686	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184758838	chr7:108204688-108204689	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs200162692	chr7:108204700-108204701	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201454346	chr7:108204712-108204713	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs149672582	chr7:108204727-108204728	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372778260	chr7:108204728-108204729	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs202095088	chr7:108204794-108204795	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs377069513	chr7:108204808-108204809	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145849233	chr7:108204845-108204846	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs370107035	chr7:108204862-108204863	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs373994318	chr7:108204868-108204869	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs141843120	chr7:108204885-108204886	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs188051889	chr7:108204900-108204901	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371465892	chr7:108204910-108204911	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368230569	chr7:108204927-108204928	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370762157	chr7:108204935-108204936	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375104804	chr7:108204936-108204937	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs367769719	chr7:108204959-108204960	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371253956	chr7:108205024-108205025	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs553452430	chr7:108205046-108205047	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs145694107	chr7:108205071-108205072	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111647889	chr7:108205106-108205107	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200941393	chr7:108205107-108205108	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs368813375	chr7:108205108-108205109	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs147719254	chr7:108205125-108205126	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs570416397	chr7:108205153-108205154	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs373750278	chr7:108205156-108205157	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368199982	chr7:108205171-108205172	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs142576735	chr7:108205172-108205173	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs192004311	chr7:108205177-108205178	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539268255	chr7:108205209-108205210	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs372222207	chr7:108205228-108205229	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs141982321	chr7:108205268-108205269	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 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
Melanoma	17363583	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

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108191400-108204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:108195600-108208400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108197600-108208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:108197800-108208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:108198000-108208400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:108198400-108207800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:108198400-108208400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:108198600-108204600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:108198600-108204800	Weak transcription	Dnd41	blood
10	chr7:108198600-108207400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:108198600-108208600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:108198600-108208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:108198600-108208600	Weak transcription	Fetal Brain Male	brain
14	chr7:108198600-108208600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:108198600-108208600	Weak transcription	Thymus	Thymus
16	chr7:108198800-108205800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:108198800-108206000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:108199000-108207600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:108199400-108207400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:108199400-108208200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:108199600-108204600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:108199600-108204600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:108199800-108204800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:108199800-108204800	Weak transcription	GM12878-XiMat	blood
25	chr7:108200000-108207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:108200000-108207800	Weak transcription	HepG2	liver
27	chr7:108200200-108204600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:108200200-108206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:108200200-108208000	Weak transcription	Brain Angular Gyrus	brain
30	chr7:108200400-108209400	Weak transcription	Spleen	Spleen
31	chr7:108200600-108208400	Weak transcription	NHLF	lung
32	chr7:108201200-108208600	Weak transcription	Pancreas	Pancrea
33	chr7:108201600-108204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:108201600-108207200	Weak transcription	HUVEC	blood vessel
35	chr7:108201600-108208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:108201600-108208600	Weak transcription	Left Ventricle	heart
37	chr7:108201600-108208600	Weak transcription	Right Ventricle	heart
38	chr7:108201800-108207400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:108201800-108208400	Weak transcription	Brain Germinal Matrix	brain
40	chr7:108202000-108207000	Strong transcription	Primary B cells from cord blood	blood
41	chr7:108202000-108207600	Weak transcription	Hela-S3	cervix
42	chr7:108202000-108207800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:108202000-108208400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:108202200-108205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:108202200-108205200	Weak transcription	Osteobl	bone
46	chr7:108202200-108206200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:108202200-108207200	Weak transcription	Fetal Heart	heart
48	chr7:108202200-108207600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:108202200-108208600	Weak transcription	Fetal Stomach	stomach
50	chr7:108202200-108209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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