Variant report

Variant	nsv981577
Chromosome Location	chr7:128102655-128107081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:128102640-128102790	NHLF	lung:	n/a	n/a
2	CTCF	chr7:128105360-128105397	LNCaP	prostate:	n/a	n/a
3	FOSL2	chr7:128104019-128104298	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:128104014-128104357	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:128104011-128104274	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:128103911-128104396	HepG2	liver:	n/a	n/a
7	FOXA2	chr7:128104048-128104206	HepG2	liver:	n/a	n/a
8	GATA2	chr7:128103932-128104338	K562	blood:	n/a	n/a
9	HNF4A	chr7:128104034-128104292	HepG2	liver:	n/a	n/a
10	JUND	chr7:128104078-128104282	HepG2	liver:	n/a	n/a
11	NR2F2	chr7:128103941-128104369	K562	blood:	n/a	n/a
12	NR2F2	chr7:128103866-128104471	K562	blood:	n/a	n/a
13	NR3C1	chr7:128103924-128104300	A549	lung:	n/a	n/a
14	PAX5	chr7:128102887-128103352	GM12878	blood:	n/a	n/a
15	PAX5	chr7:128102851-128103256	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:128104796-128104976	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:128106329-128106498	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:128106601-128106766	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:128102792-128102806	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:128106492-128106556	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:128107026-128107260	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:128106146-128106346	GM12878	blood:	n/a	n/a
23	RXRA	chr7:128103948-128104313	HepG2	liver:	n/a	n/a
24	SP1	chr7:128104018-128104369	HepG2	liver:	n/a	n/a
25	TAL1	chr7:128103984-128104184	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128103524-128103574	GM12878	blood:	n/a
2	chr7:128103524-128103574	BJ	skin:	n/a
3	chr7:128103524-128103574	U87	brain:	n/a
4	chr7:128103524-128103574	AG04449	skin:	fetal
5	chr7:128103524-128103574	HNPCEpiC	eye:	n/a
6	chr7:128103524-128103574	K562	blood:	n/a
7	chr7:128103524-128103574	Caco-2	colon:	n/a
8	chr7:128103524-128103574	NB4	blood:	n/a
9	chr7:128103524-128103574	H1-hESC	embryonic stem cell:	embryo
10	chr7:128103524-128103574	HRE	kidney:	n/a
11	chr7:128103524-128103574	PrEC	prostate:	n/a
12	chr7:128103524-128103574	HCF	heart:	n/a
13	chr7:128103524-128103574	ovcar-3	ovarian:	n/a
14	chr7:128103524-128103574	SK-N-MC	brain:	n/a
15	chr7:128103524-128103574	T-47D	breast:	n/a
16	chr7:128103524-128103574	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:128103524-128103574	SK-N-SH	brain:	n/a
18	chr7:128103524-128103574	RPTEC	kidney:	n/a
19	chr7:128103524-128103574	SKMC	muscle:	n/a
20	chr7:128103524-128103574	SK-N-SH_RA	brain:	n/a
21	chr7:128103524-128103574	Hela-S3	cervix:	n/a
22	chr7:128103524-128103574	CMK	blood:	n/a
23	chr7:128103524-128103574	GM19239	blood:	n/a
24	chr7:128103524-128103574	HepG2	liver:	n/a
25	chr7:128103524-128103574	HCPEpiC	choroid plexus:	n/a
26	chr7:128103524-128103574	HUVEC	blood vessel:	n/a
27	chr7:128103524-128103574	NHDF-neo	bronchial:	n/a
28	chr7:128103524-128103574	MCF-7	breast:	n/a
29	chr7:128103524-128103574	ECC-1	luminal epithelium:	n/a
30	chr7:128103524-128103574	AG09319	gingival:	n/a
31	chr7:128103524-128103574	NH-A	brain:	n/a
32	chr7:128103524-128103574	HIPEpiC	eye:	n/a
33	chr7:128103524-128103574	AoSMC	blood vessel:	n/a
34	chr7:128103524-128103574	BE2_C	brain:	n/a
35	chr7:128103524-128103574	HRCEpiC	kidney:	n/a
36	chr7:128103524-128103574	Hepatocyte	liver:	n/a
37	chr7:128103524-128103574	HAEpiC	amniotic membrane:	n/a
38	chr7:128103524-128103574	PANC-1	pancreas:	n/a
39	chr7:128103524-128103574	AG10803	skin:	n/a
40	chr7:128103524-128103574	HL-60	blood:	n/a
41	chr7:128103524-128103574	SAEC	small airway:	n/a
42	chr7:128103524-128103574	LNCaP	prostate:	n/a
43	chr7:128103524-128103574	PFSK-1	brain:	n/a
44	chr7:128103524-128103574	HCM	heart:	n/a
45	chr7:128103524-128103574	HCT-116	colon:	n/a
46	chr7:128103524-128103574	GM12891	blood:	n/a
47	chr7:128103524-128103574	NT2-D1	testis:	n/a
48	chr7:128103524-128103574	MCF10A-Er-Src	breast:	n/a
49	chr7:128103524-128103574	A549	lung:	n/a
50	chr7:128103524-128103574	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
2	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:
3	chr7:128095158..128096724-chr7:128104393..128107346,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272601	TF binding region
ENSG00000272601	CpG island
ENSG00000240758	chromatin interactions
ENSG00000228700	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000135245	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 77 )

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	rs568920228	chr7:128102669-128102670	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539662354	chr7:128102695-128102696	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184623683	chr7:128102721-128102722	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572635185	chr7:128102787-128102788	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555022566	chr7:128102869-128102870	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368005575	chr7:128102870-128102871	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534060179	chr7:128102880-128102881	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140056280	chr7:128102888-128102889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs17627068	chr7:128102892-128102893	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs189567023	chr7:128102932-128102933	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544537359	chr7:128102944-128102945	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571866948	chr7:128102946-128102947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs578108549	chr7:128102954-128102955	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545612201	chr7:128102991-128102992	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs180801146	chr7:128103004-128103005	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143687079	chr7:128103062-128103063	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs61192768	chr7:128103065-128103066	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561222211	chr7:128103108-128103109	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531743316	chr7:128103115-128103116	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550594055	chr7:128103141-128103142	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569160210	chr7:128103153-128103154	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564531898	chr7:128103157-128103158	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539239234	chr7:128103163-128103164	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551124969	chr7:128103165-128103166	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566349232	chr7:128103179-128103180	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186560166	chr7:128103224-128103225	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555051431	chr7:128103226-128103227	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573629715	chr7:128103269-128103270	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537892759	chr7:128103351-128103352	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556559621	chr7:128103374-128103375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376177180	chr7:128103379-128103380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578223025	chr7:128103381-128103382	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542788353	chr7:128103408-128103409	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560641898	chr7:128103419-128103420	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375307108	chr7:128103439-128103440	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543106881	chr7:128103521-128103522	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553093351	chr7:128103523-128103524	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs531606721	chr7:128103540-128103541	Strong transcription Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs550181037	chr7:128103544-128103545	Strong transcription Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs565149500	chr7:128103551-128103552	Strong transcription Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs528459518	chr7:128103602-128103603	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79192069	chr7:128103605-128103606	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs566290515	chr7:128103638-128103639	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527523178	chr7:128103682-128103683	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544855487	chr7:128103694-128103695	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573582534	chr7:128103698-128103699	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548663354	chr7:128103699-128103700	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567385023	chr7:128103704-128103705	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113667482	chr7:128103728-128103729	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556091422	chr7:128103729-128103730	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
4	chr7:128097600-128102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
6	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
7	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
8	chr7:128097800-128116400	Weak transcription	Gastric	stomach
9	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:128098200-128102800	Weak transcription	Right Ventricle	heart
11	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:128098600-128104800	Weak transcription	Osteobl	bone
15	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:128099800-128102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:128099800-128102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:128099800-128103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
26	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:128099800-128116400	Weak transcription	Ovary	ovary
31	chr7:128100000-128102800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:128100000-128102800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:128100000-128104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
35	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus
42	chr7:128100000-128116400	Weak transcription	Fetal Brain Male	brain
43	chr7:128100200-128108000	Weak transcription	Brain Anterior Caudate	brain
44	chr7:128100200-128108000	Weak transcription	Dnd41	blood
45	chr7:128100200-128116200	Weak transcription	Brain Germinal Matrix	brain
46	chr7:128100200-128116200	Weak transcription	K562	blood
47	chr7:128100400-128108200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:128100400-128116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:128100600-128116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:128101200-128105200	Weak transcription	GM12878-XiMat	blood

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