Variant report

Variant	esv990949
Chromosome Location	chr7:150676017-150676050
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	chr7:150675990-150676483	K562	blood:	n/a	chr7:150676280-150676296
2	CBX3	chr7:150675464-150676565	K562	blood:	n/a	n/a
3	CEBPD	chr7:150675762-150676300	K562	blood:	n/a	n/a
4	CHD2	chr7:150676008-150676490	H1-hESC	embryonic stem cell:	n/a	chr7:150676330-150676340
5	CTCF	chr7:150676020-150676170	HPF	lung:	n/a	n/a
6	CTCF	chr7:150676040-150676190	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:150675939-150676437	K562	blood:	n/a	n/a
8	CTCF	chr7:150676017-150676267	K562	blood:	n/a	n/a
9	CTCF	chr7:150675940-150676359	K562	blood:	n/a	n/a
10	E2F6	chr7:150675494-150676067	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr7:150676039-150676204	GM12878	blood:	n/a	n/a
12	ELF1	chr7:150675931-150676249	K562	blood:	n/a	n/a
13	EP300	chr7:150676045-150676250	K562	blood:	n/a	n/a
14	ETS1	chr7:150676034-150676564	K562	blood:	n/a	chr7:150676422-150676433 chr7:150676330-150676341 chr7:150676548-150676559
15	GABPA	chr7:150675336-150676853	K562	blood:	n/a	chr7:150676550-150676559 chr7:150676406-150676415
16	GABPA	chr7:150675905-150676261	K562	blood:	n/a	n/a
17	GABPA	chr7:150675954-150676457	H1-hESC	embryonic stem cell:	n/a	chr7:150676406-150676415
18	HDAC2	chr7:150675993-150676735	K562	blood:	n/a	chr7:150676665-150676684
19	IRF1	chr7:150675947-150676228	K562	blood:	n/a	n/a
20	JUND	chr7:150675570-150676529	K562	blood:	n/a	chr7:150676450-150676461
21	KAP1	chr7:150675717-150676201	HEK293	kidney:	n/a	n/a
22	KAP1	chr7:150675665-150676276	U2OS	brain:	n/a	n/a
23	MAX	chr7:150674899-150676732	K562	blood:	n/a	chr7:150676336-150676346
24	MAX	chr7:150675578-150676363	NB4	blood:	n/a	chr7:150676336-150676346
25	MAX	chr7:150675399-150676030	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr7:150676010-150676712	K562	blood:	n/a	chr7:150676336-150676346
27	MAX	chr7:150675384-150676295	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr7:150675986-150676344	K562	blood:	n/a	n/a
29	MAZ	chr7:150675175-150676745	IMR90	lung:	n/a	chr7:150676336-150676346
30	MAZ	chr7:150675337-150676410	GM12878	blood:	n/a	chr7:150676336-150676346
31	MAZ	chr7:150674925-150676710	K562	blood:	n/a	chr7:150676336-150676346
32	MXI1	chr7:150667686-150678267	SK-N-SH	brain:	n/a	chr7:150668498-150668513 chr7:150668500-150668515
33	MXI1	chr7:150675936-150676362	K562	blood:	n/a	n/a
34	MYC	chr7:150675930-150676401	K562	blood:	n/a	chr7:150676336-150676346
35	NR2F2	chr7:150675422-150676612	K562	blood:	n/a	n/a
36	POLR2A	chr7:150675182-150676364	Raji	blood:	n/a	n/a
37	POLR2A	chr7:150674435-150677141	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr7:150675452-150676344	K562	blood:	n/a	n/a
39	POLR2A	chr7:150674365-150677052	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr7:150675603-150676499	K562	blood:	n/a	n/a
41	RAD21	chr7:150675446-150678328	SK-N-SH	brain:	n/a	chr7:150676868-150676887 chr7:150677600-150677610
42	RAD21	chr7:150676032-150676281	K562	blood:	n/a	n/a
43	RCOR1	chr7:150675352-150676652	K562	blood:	n/a	n/a
44	REST	chr7:150674299-150677276	H1-neurons	neurons:	n/a	chr7:150676665-150676685 chr7:150676666-150676684 chr7:150676421-150676434 chr7:150675568-150675581 chr7:150676665-150676685 chr7:150676295-150676315
45	RUNX3	chr7:150676042-150676451	GM12878	blood:	n/a	n/a
46	RUNX3	chr7:150675964-150676460	GM12878	blood:	n/a	n/a
47	SIN3A	chr7:150675066-150676870	H1-hESC	embryonic stem cell:	n/a	chr7:150676337-150676350
48	SIN3AK20	chr7:150675864-150676776	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr7:150675938-150676584	K562	blood:	n/a	n/a
50	SMC3	chr7:150675976-150676115	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150675659..150676250-chr7:150705407..150706353,2	K562	blood:
2	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
3	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
4	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
5	chr7:150661579..150663428-chr7:150675690..150677350,2	MCF-7	breast:
6	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000106526	chromatin interactions
ENSG00000164867	chromatin interactions
ENSG00000055118	chromatin interactions
ENSG00000127399	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11765684	chr7:150676017-150676018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs61695422	chr7:150676019-150676020	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150673600-150676600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150674200-150676400	Active TSS	Right Atrium	heart
3	chr7:150674600-150676400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr7:150674600-150676600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:150674600-150676600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150674600-150676600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:150674600-150676600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:150674600-150676600	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:150674600-150676800	Active TSS	Fetal Brain Female	brain
10	chr7:150674800-150676600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:150674800-150676600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:150674800-150676600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:150674800-150676600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:150674800-150676600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:150674800-150676600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:150674800-150676600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:150674800-150676600	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:150674800-150676600	Active TSS	Brain Germinal Matrix	brain
19	chr7:150674800-150676800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:150674800-150676800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:150675200-150676400	Active TSS	Aorta	Aorta
22	chr7:150675200-150676600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:150675200-150676600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:150675200-150676800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr7:150675400-150677400	Enhancers	Spleen	Spleen
26	chr7:150675600-150676200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
29	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr7:150675600-150676200	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr7:150675600-150676200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr7:150675600-150676200	Flanking Active TSS	Fetal Lung	lung
36	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
39	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr7:150675600-150676200	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr7:150675600-150676200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
42	chr7:150675600-150676200	Flanking Active TSS	HSMM	muscle
43	chr7:150675600-150676200	Bivalent Enhancer	HUVEC	blood vessel
44	chr7:150675600-150676400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:150675600-150676400	Active TSS	Brain Anterior Caudate	brain
46	chr7:150675600-150676400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:150675600-150676400	Flanking Active TSS	A549	lung
48	chr7:150675600-150676400	Flanking Active TSS	K562	blood
49	chr7:150675600-150676400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr7:150675600-150676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links