Variant report

Variant	nsv437560
Chromosome Location	chr7:104461487-104482321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:104482307-104482460	K562	blood:	n/a	n/a
2	ATF1	chr7:104482256-104482566	K562	blood:	n/a	n/a
3	CEBPB	chr7:104479052-104479240	K562	blood:	n/a	n/a
4	CTCF	chr7:104467627-104467677	Fibrobl	skin:	n/a	n/a
5	EBF1	chr7:104479099-104479731	GM12878	blood:	n/a	chr7:104479511-104479522
6	EBF1	chr7:104479101-104479640	GM12878	blood:	n/a	chr7:104479511-104479522
7	ELF1	chr7:104482229-104482592	K562	blood:	n/a	chr7:104482427-104482440
8	EP300	chr7:104479110-104479205	GM12878	blood:	n/a	n/a
9	EP300	chr7:104479096-104479279	GM12878	blood:	n/a	n/a
10	EP300	chr7:104482250-104482639	K562	blood:	n/a	n/a
11	FAM48A	chr7:104462655-104462779	GM12878	blood:	n/a	n/a
12	GATA1	chr7:104463982-104464388	PBDE	blood:	n/a	n/a
13	GATA1	chr7:104465552-104466314	PBDE	blood:	n/a	chr7:104465684-104465693
14	GATA2	chr7:104482233-104482597	K562	blood:	n/a	chr7:104482373-104482384 chr7:104482427-104482437
15	GATA3	chr7:104478952-104479134	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr7:104475298-104475313	SH-SY5Y	brain:	n/a	n/a
17	MAX	chr7:104478998-104479418	NB4	blood:	n/a	chr7:104479151-104479161
18	MXI1	chr7:104479092-104479200	GM12878	blood:	n/a	n/a
19	MYC	chr7:104478981-104479363	NB4	blood:	n/a	chr7:104479151-104479161
20	NFYB	chr7:104466150-104466195	GM12878	blood:	n/a	n/a
21	NRF1	chr7:104475289-104475295	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:104478111-104478264	K562	blood:	n/a	n/a
23	POLR2A	chr7:104476820-104477011	K562	blood:	n/a	n/a
24	POLR2A	chr7:104480559-104480570	K562	blood:	n/a	n/a
25	POLR2A	chr7:104473393-104473416	K562	blood:	n/a	n/a
26	POLR2A	chr7:104476388-104476555	K562	blood:	n/a	n/a
27	POLR2A	chr7:104464239-104464373	K562	blood:	n/a	n/a
28	POLR2A	chr7:104472266-104472751	K562	blood:	n/a	n/a
29	POLR2A	chr7:104461576-104461643	K562	blood:	n/a	n/a
30	POLR2A	chr7:104474897-104475552	K562	blood:	n/a	n/a
31	POLR2A	chr7:104479676-104479965	K562	blood:	n/a	n/a
32	POLR2A	chr7:104480276-104480407	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr7:104479338-104479459	GM12878	blood:	n/a	n/a
34	RCOR1	chr7:104466654-104466987	K562	blood:	n/a	n/a
35	RCOR1	chr7:104482247-104482586	K562	blood:	n/a	n/a
36	REST	chr7:104466036-104466251	K562	blood:	n/a	n/a
37	REST	chr7:104466043-104466209	H1-hESC	embryonic stem cell:	n/a	n/a
38	RFX5	chr7:104471608-104471616	K562	blood:	n/a	n/a
39	SPI1	chr7:104479089-104479304	GM12891	blood:	n/a	n/a
40	SPI1	chr7:104479003-104479411	HL-60	blood:	n/a	n/a
41	SPI1	chr7:104479014-104479343	GM12878	blood:	n/a	n/a
42	STAT3	chr7:104479093-104479241	GM12878	blood:	n/a	n/a
43	STAT3	chr7:104477190-104477348	MCF10A-Er-Src	breast:	n/a	n/a
44	TAL1	chr7:104466625-104466908	K562	blood:	n/a	n/a
45	TEAD4	chr7:104466557-104466917	K562	blood:	n/a	n/a
46	ZNF274	chr7:104465157-104465877	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
2	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
3	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572

No data

Variant related genes	Relation type
ENSG00000237606	TF binding region

Extended variants
information (count: 862 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2465065	chr7:104461487-104461488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563340190	chr7:104461489-104461490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375899626	chr7:104461510-104461511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532413261	chr7:104461578-104461579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62484328	chr7:104461589-104461590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79412676	chr7:104461602-104461603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559426825	chr7:104461640-104461641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528636691	chr7:104461667-104461668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73417618	chr7:104461671-104461672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556935061	chr7:104461676-104461677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191281443	chr7:104461682-104461683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116531418	chr7:104461695-104461696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551028782	chr7:104461766-104461767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4072684	chr7:104461777-104461778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538640870	chr7:104461797-104461798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149254945	chr7:104461810-104461811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565795597	chr7:104461825-104461826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62484329	chr7:104461827-104461828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554728277	chr7:104461858-104461859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117276923	chr7:104461872-104461873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539463045	chr7:104462075-104462076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189265885	chr7:104462079-104462080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556848000	chr7:104462126-104462127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556149486	chr7:104462137-104462138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73714141	chr7:104462154-104462155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545817937	chr7:104462179-104462180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559390021	chr7:104462185-104462186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75834128	chr7:104462193-104462194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372800869	chr7:104462254-104462255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182229730	chr7:104462266-104462267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146181277	chr7:104462303-104462304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531016419	chr7:104462304-104462305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187568543	chr7:104462333-104462334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571178213	chr7:104462351-104462352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532118346	chr7:104462385-104462386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552180895	chr7:104462390-104462391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189858285	chr7:104462567-104462568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181929313	chr7:104462574-104462575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554412722	chr7:104462589-104462590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78645536	chr7:104462609-104462610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541705910	chr7:104462666-104462667	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs56305740	chr7:104462667-104462668	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559366090	chr7:104462703-104462704	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs139438574	chr7:104462708-104462709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367807845	chr7:104462714-104462715	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs576747066	chr7:104462767-104462768	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs545729570	chr7:104462887-104462888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568086908	chr7:104462894-104462895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185685536	chr7:104462909-104462910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573205170	chr7:104462927-104462928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104457400-104461600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:104458400-104463400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:104459600-104461800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:104459800-104462000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:104459800-104463000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:104460400-104461800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:104460400-104463200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:104460400-104465600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:104460800-104461800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:104460800-104462200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:104461000-104462600	Enhancers	Fetal Kidney	kidney
13	chr7:104461000-104470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:104461200-104461800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:104461200-104462000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:104461400-104465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:104461600-104462200	Enhancers	Brain Anterior Caudate	brain
18	chr7:104461800-104462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:104461800-104465000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:104462000-104463000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104462800-104467000	Weak transcription	Fetal Heart	heart
22	chr7:104463000-104463400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:104463200-104463400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:104465600-104465800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:104465600-104466000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:104465600-104466200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:104466000-104486800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:104474800-104475200	Enhancers	Pancreas	Pancrea
29	chr7:104476400-104503000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:104477000-104477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:104477200-104478000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:104477400-104477800	Enhancers	Adipose Nuclei	Adipose
33	chr7:104477600-104477800	Enhancers	Colon Smooth Muscle	Colon
34	chr7:104477800-104478600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:104477800-104478600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:104477800-104479000	Weak transcription	Adipose Nuclei	Adipose
37	chr7:104478200-104481400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:104478400-104480000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:104478600-104479600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:104478600-104479600	Enhancers	Colon Smooth Muscle	Colon
41	chr7:104478600-104480200	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:104478600-104480200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:104479000-104479600	Enhancers	Adipose Nuclei	Adipose
44	chr7:104479000-104480000	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:104479600-104488800	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:104481400-104482400	Strong transcription	Fetal Intestine Large	intestine
47	chr7:104481600-104483200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:104481600-104514400	Weak transcription	Fetal Kidney	kidney
49	chr7:104482000-104483000	Enhancers	K562	blood
50	chr7:104482200-104482400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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