Variant report

Variant	esv3379823
Chromosome Location	chr7:128343907-128344299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:128343863-128343974	K562	blood:	n/a	n/a
2	FOS	chr7:128343931-128344027	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr7:128343692-128344043	K562	blood:	n/a	n/a
4	ZNF384	chr7:128343786-128343909	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128343789..128345525-chr7:128387632..128390357,2	K562	blood:
2	chr7:128336358..128338918-chr7:128343519..128346350,2	K562	blood:
3	chr7:128343745..128346373-chr7:128352660..128354319,2	MCF-7	breast:

Variant related genes	Relation type
FAM71F1	TF binding region
ENSG00000252866	chromatin interactions
ENSG00000201041	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80123496	chr7:128343951-128343952	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116356096	chr7:128343957-128343958	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578122905	chr7:128343960-128343961	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545505147	chr7:128343962-128343963	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560315569	chr7:128343964-128343965	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11972335	chr7:128343966-128343967	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs62483370	chr7:128344014-128344015	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs546017356	chr7:128344137-128344138	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73465155	chr7:128344140-128344141	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191421117	chr7:128344172-128344173	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149454559	chr7:128344225-128344226	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568626264	chr7:128344282-128344283	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11972414	chr7:128344283-128344284	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs116673268	chr7:128344287-128344288	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338000-128346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128340000-128344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:128340200-128344000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:128341200-128344000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:128341200-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:128341800-128344800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:128341800-128346000	Weak transcription	HMEC	breast
10	chr7:128342000-128344600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:128343400-128345000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:128343600-128344000	Enhancers	Spleen	Spleen
13	chr7:128343600-128344000	Bivalent Enhancer	HepG2	liver
14	chr7:128343600-128344200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:128343600-128344200	Enhancers	Adipose Nuclei	Adipose
16	chr7:128343600-128344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:128343600-128344200	Enhancers	NHLF	lung
18	chr7:128343600-128345200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:128343600-128345600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:128343800-128344000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:128343800-128344000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128343800-128344000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:128343800-128344000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:128343800-128344200	Enhancers	Brain Germinal Matrix	brain
25	chr7:128343800-128345400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:128343800-128345400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:128343800-128345800	Weak transcription	Right Atrium	heart
28	chr7:128344000-128344200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:128344000-128344200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:128344000-128344600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:128344000-128345400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:128344000-128346200	Weak transcription	Spleen	Spleen
33	chr7:128344000-128348200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:128344000-128349000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:128344200-128344400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:128344200-128344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:128344200-128345000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:128344200-128348600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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