Variant report

Variant	esv1797871
Chromosome Location	chr7:39499852-39503496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:39500975-39501228	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:39500934-39501272	K562	blood:	n/a	n/a
3	CEBPB	chr7:39500929-39501237	IMR90	lung:	n/a	n/a
4	CEBPB	chr7:39500931-39501201	HepG2	liver:	n/a	n/a
5	FOXP2	chr7:39500876-39501101	SK-N-MC	brain:	n/a	n/a
6	JUN	chr7:39500414-39500438	K562	blood:	n/a	n/a
7	MYC	chr7:39501061-39501235	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr7:39500903-39501370	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr7:39500302-39500371	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:39500219-39500398	MCF-7	breast:	n/a	n/a
11	RAD21	chr7:39502505-39502536	A549	lung:	n/a	n/a
12	SPI1	chr7:39499772-39499944	K562	blood:	n/a	chr7:39499893-39499906
13	USF2	chr7:39502186-39502189	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39500223-39500273	GM12878	blood:	n/a
2	chr7:39500223-39500273	HCF	heart:	n/a
3	chr7:39500288-39500338	PFSK-1	brain:	n/a
4	chr7:39500288-39500338	MCF10A-Er-Src	breast:	n/a
5	chr7:39500223-39500273	HRPEpiC	eye:	n/a
6	chr7:39500223-39500273	HCM	heart:	n/a
7	chr7:39500223-39500273	HL-60	blood:	n/a
8	chr7:39500223-39500273	SKMC	muscle:	n/a
9	chr7:39500223-39500273	NH-A	brain:	n/a
10	chr7:39500223-39500273	PFSK-1	brain:	n/a
11	chr7:39500223-39500273	HRE	kidney:	n/a
12	chr7:39500288-39500338	HCM	heart:	n/a
13	chr7:39500288-39500338	AG04450	lung:	fetal
14	chr7:39500288-39500338	Hela-S3	cervix:	n/a
15	chr7:39500223-39500273	A549	lung:	n/a
16	chr7:39500223-39500273	HEEpiC	esophagus:	n/a
17	chr7:39500223-39500273	NT2-D1	testis:	n/a
18	chr7:39500288-39500338	NHBE	bronchial:	n/a
19	chr7:39500223-39500273	CMK	blood:	n/a
20	chr7:39500288-39500338	K562	blood:	n/a
21	chr7:39500288-39500338	NB4	blood:	n/a
22	chr7:39500288-39500338	AoSMC	blood vessel:	n/a
23	chr7:39500223-39500273	SK-N-SH_RA	brain:	n/a
24	chr7:39500223-39500273	MCF-7	breast:	n/a
25	chr7:39500223-39500273	GM12891	blood:	n/a
26	chr7:39500288-39500338	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:39500288-39500338	Caco-2	colon:	n/a
28	chr7:39500288-39500338	ECC-1	luminal epithelium:	n/a
29	chr7:39500288-39500338	CMK	blood:	n/a
30	chr7:39500288-39500338	GM12878	blood:	n/a
31	chr7:39500223-39500273	Jurkat	blood:	n/a
32	chr7:39500223-39500273	HCPEpiC	choroid plexus:	n/a
33	chr7:39500223-39500273	AG10803	skin:	n/a
34	chr7:39500288-39500338	A549	lung:	n/a
35	chr7:39500288-39500338	HRE	kidney:	n/a
36	chr7:39500288-39500338	IMR90	lung:	fetal
37	chr7:39500223-39500273	Caco-2	colon:	n/a
38	chr7:39500223-39500273	AG09319	gingival:	n/a
39	chr7:39500288-39500338	GM06990	blood:	n/a
40	chr7:39500288-39500338	SKMC	muscle:	n/a
41	chr7:39500223-39500273	SK-N-SH	brain:	n/a
42	chr7:39500223-39500273	ECC-1	luminal epithelium:	n/a
43	chr7:39500223-39500273	HEK293	kidney:	embryo
44	chr7:39500223-39500273	PANC-1	pancreas:	n/a
45	chr7:39500288-39500338	NHDF-neo	bronchial:	n/a
46	chr7:39500288-39500338	HRPEpiC	eye:	n/a
47	chr7:39500288-39500338	PrEC	prostate:	n/a
48	chr7:39500288-39500338	HMEC	breast:	n/a
49	chr7:39500288-39500338	NT2-D1	testis:	n/a
50	chr7:39500288-39500338	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39498982..39501819-chr7:39501974..39504808,2	K562	blood:
2	chr7:39493293..39495900-chr7:39499088..39502872,3	K562	blood:

No data

Variant related genes	Relation type
POU6F2	TF binding region
POU6F2	CpG island
ENSG00000106536	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572367791	chr7:39499939-39499940	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564411704	chr7:39499945-39499946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533218970	chr7:39499972-39499973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550690322	chr7:39500067-39500068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377295339	chr7:39500113-39500114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369984357	chr7:39500114-39500115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549808173	chr7:39500136-39500137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371316682	chr7:39500156-39500157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548578851	chr7:39500162-39500163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375867583	chr7:39500178-39500179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145241880	chr7:39500196-39500197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368700023	chr7:39500226-39500227	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs4992268	chr7:39500241-39500242	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200235640	chr7:39500263-39500264	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369179055	chr7:39500284-39500285	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544569284	chr7:39500299-39500300	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199649027	chr7:39500302-39500303	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369272246	chr7:39500321-39500322	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372227306	chr7:39500322-39500323	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565746134	chr7:39500324-39500325	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375123427	chr7:39500327-39500328	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs885689	chr7:39500352-39500353	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78728821	chr7:39500391-39500392	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570811696	chr7:39500410-39500411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186829561	chr7:39500474-39500475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs740510	chr7:39500521-39500522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs556154404	chr7:39500529-39500530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576392658	chr7:39500545-39500546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115556149	chr7:39500565-39500566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191860126	chr7:39500566-39500567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142606523	chr7:39500605-39500606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552716793	chr7:39500607-39500608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544454476	chr7:39500624-39500625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150996815	chr7:39500692-39500693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564229251	chr7:39500749-39500750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578016638	chr7:39500754-39500755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376945149	chr7:39500776-39500777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184433248	chr7:39500794-39500795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528910837	chr7:39500839-39500840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548960960	chr7:39500854-39500855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145404171	chr7:39500859-39500860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562682049	chr7:39501024-39501025	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528134972	chr7:39501029-39501030	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547605750	chr7:39501087-39501088	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187712747	chr7:39501178-39501179	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539629970	chr7:39501193-39501194	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550088438	chr7:39501197-39501198	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545277033	chr7:39501205-39501206	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570323530	chr7:39501329-39501330	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147693755	chr7:39501399-39501400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39485800-39502000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39492000-39504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:39493800-39500800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39494000-39500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39497200-39503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:39498200-39500000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:39498200-39504600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:39498600-39500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:39498600-39500200	Enhancers	K562	blood
10	chr7:39498600-39500600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:39499200-39504800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:39499400-39504400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:39499600-39501000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:39499600-39501600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:39499600-39501800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:39499600-39501800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:39499600-39504400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:39499800-39501000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:39499800-39501000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:39499800-39501400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:39500000-39500200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:39500000-39500600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:39500200-39500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:39500200-39500600	Enhancers	Fetal Brain Male	brain
25	chr7:39500200-39500600	Weak transcription	K562	blood
26	chr7:39500600-39500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:39500600-39500800	Enhancers	K562	blood
28	chr7:39500600-39501000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:39500600-39502400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:39500600-39503000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:39500600-39504800	Weak transcription	Fetal Brain Male	brain
32	chr7:39500800-39501400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:39500800-39501600	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:39500800-39502600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:39500800-39504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:39500800-39504800	Weak transcription	K562	blood
37	chr7:39501000-39501200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:39501000-39501200	Enhancers	Dnd41	blood
39	chr7:39501000-39501800	Enhancers	Fetal Kidney	kidney
40	chr7:39501000-39502000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:39501000-39502800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:39501000-39503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:39501200-39502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:39501200-39504800	Weak transcription	Dnd41	blood
45	chr7:39501400-39503400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:39501600-39502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:39501600-39502800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:39501600-39503400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:39501800-39502400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:39501800-39503000	Enhancers	HUES48 Cell Line	embryonic stem cell

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