Variant report

Variant	esv3354912
Chromosome Location	chr7:100245816-100250114
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	BCL3	chr7:100247627-100248258	GM12878	blood:	n/a	n/a
2	BCL3	chr7:100247674-100248153	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:100246599-100246701	K562	blood:	n/a	n/a
4	CEBPB	chr7:100247508-100247836	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:100246610-100246706	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:100247572-100247735	HepG2	liver:	n/a	n/a
7	E2F6	chr7:100246313-100246497	K562	blood:	n/a	n/a
8	JUN	chr7:100246441-100246604	HepG2	liver:	n/a	chr7:100246577-100246584 chr7:100246575-100246587 chr7:100246576-100246585 chr7:100246576-100246586 chr7:100246577-100246585 chr7:100246577-100246586
9	JUND	chr7:100246527-100246599	H1-hESC	embryonic stem cell:	n/a	chr7:100246577-100246584 chr7:100246575-100246587 chr7:100246576-100246585 chr7:100246576-100246586 chr7:100246577-100246585 chr7:100246575-100246586 chr7:100246577-100246586
10	JUND	chr7:100246422-100246740	HepG2	liver:	n/a	chr7:100246577-100246584 chr7:100246575-100246587 chr7:100246576-100246585 chr7:100246576-100246586 chr7:100246577-100246585 chr7:100246575-100246586 chr7:100246577-100246586
11	JUND	chr7:100245987-100246894	SK-N-SH	brain:	n/a	chr7:100246577-100246584 chr7:100246575-100246587 chr7:100246576-100246585 chr7:100246576-100246586 chr7:100246577-100246585 chr7:100246575-100246586 chr7:100246577-100246586
12	JUND	chr7:100246531-100246601	K562	blood:	n/a	chr7:100246577-100246584 chr7:100246575-100246587 chr7:100246576-100246585 chr7:100246576-100246586 chr7:100246577-100246585 chr7:100246575-100246586 chr7:100246577-100246586
13	MAFK	chr7:100247603-100247680	HepG2	liver:	n/a	n/a
14	MAX	chr7:100246253-100246528	K562	blood:	n/a	n/a
15	MAZ	chr7:100247696-100247771	HepG2	liver:	n/a	n/a
16	NFATC1	chr7:100247732-100248144	GM12878	blood:	n/a	n/a
17	NFATC1	chr7:100247694-100248177	GM12878	blood:	n/a	n/a
18	PBX3	chr7:100247720-100248164	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:100247889-100247971	K562	blood:	n/a	n/a
20	POLR2A	chr7:100247775-100247852	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:100247958-100248104	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:100247775-100247811	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:100247865-100247960	HepG2	liver:	n/a	n/a
24	REST	chr7:100246205-100246549	ECC-1	luminal epithelium:	n/a	n/a
25	SPI1	chr7:100245911-100246123	K562	blood:	n/a	n/a
26	STAT5A	chr7:100247750-100248141	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100238851..100242571-chr7:100242728..100246485,5	K562	blood:
2	chr7:100248133..100250924-chr7:100303079..100304730,2	K562	blood:
3	chr7:100243605..100246571-chr7:100269514..100273196,3	MCF-7	breast:
4	chr7:100246623..100248795-chr7:100271093..100273897,3	K562	blood:
5	chr7:100245838..100247558-chr7:100254172..100256418,2	K562	blood:
6	chr7:100240313..100241919-chr7:100244604..100246512,2	K562	blood:
7	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:
8	chr7:100244936..100248659-chr7:100302010..100305093,4	MCF-7	breast:
9	chr7:100249425..100251826-chr7:100281638..100283397,2	MCF-7	breast:
10	chr7:100228618..100230639-chr7:100245989..100248037,2	MCF-7	breast:
11	chr7:100210802..100213232-chr7:100246943..100248690,2	K562	blood:
12	chr7:100241245..100242856-chr7:100246941..100249292,2	MCF-7	breast:
13	chr7:100243852..100245998-chr7:100273803..100276710,3	MCF-7	breast:
14	chr7:100249476..100251370-chr7:100270921..100272779,2	MCF-7	breast:

Variant related genes	Relation type
ACTL6B	TF binding region
ENSG00000172336	chromatin interactions
ENSG00000146830	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000106327	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs188209789	chr7:100245835-100245836	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs181349781	chr7:100245836-100245837	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs539802110	chr7:100245840-100245841	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150261646	chr7:100245848-100245849	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11770534	chr7:100245876-100245877	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs576604179	chr7:100245877-100245878	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs373365685	chr7:100245901-100245902	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185575028	chr7:100246008-100246009	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs550033337	chr7:100246076-100246077	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs571622608	chr7:100246114-100246115	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374337841	chr7:100246130-100246131	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377101454	chr7:100246161-100246162	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543981377	chr7:100246176-100246177	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs199610335	chr7:100246188-100246189	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs201842916	chr7:100246214-100246215	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs368302187	chr7:100246215-100246216	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs200540463	chr7:100246257-100246258	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs74890254	chr7:100246260-100246261	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554651025	chr7:100246275-100246276	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs576533758	chr7:100246296-100246297	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376911059	chr7:100246339-100246340	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs367650090	chr7:100246341-100246342	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs191919283	chr7:100246365-100246366	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs76279851	chr7:100246368-100246369	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs556459278	chr7:100246371-100246372	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs181476802	chr7:100246419-100246420	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs369764242	chr7:100246422-100246423	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545175553	chr7:100246437-100246438	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs370684630	chr7:100246480-100246481	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560338358	chr7:100246486-100246487	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs186950698	chr7:100246489-100246490	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs542738129	chr7:100246566-100246567	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs192097937	chr7:100246676-100246677	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs531173796	chr7:100246689-100246690	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs555900235	chr7:100246743-100246744	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549376929	chr7:100246777-100246778	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs574138935	chr7:100246816-100246817	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs571562292	chr7:100246817-100246818	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs532712513	chr7:100246861-100246862	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs547665572	chr7:100246910-100246911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567700079	chr7:100246936-100246937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs566297676	chr7:100246963-100246964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536326967	chr7:100246970-100246971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs10235209	chr7:100247109-100247110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555016867	chr7:100247211-100247212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs183181128	chr7:100247212-100247213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576405685	chr7:100247213-100247214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs199921116	chr7:100247240-100247241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs541282612	chr7:100247257-100247258	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs369064304	chr7:100247271-100247272	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100231400-100247200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:100238400-100252600	Weak transcription	Gastric	stomach
3	chr7:100240600-100248200	Strong transcription	Fetal Brain Female	brain
4	chr7:100240800-100247800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:100241000-100247800	Weak transcription	Pancreas	Pancrea
6	chr7:100241000-100253200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:100241600-100252400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:100241800-100249800	Strong transcription	Brain Germinal Matrix	brain
9	chr7:100243800-100246600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100244400-100246400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:100244600-100246000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:100245400-100247600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:100245800-100246200	Enhancers	K562	blood
14	chr7:100245800-100246600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:100246000-100246200	Enhancers	Esophagus	oesophagus
16	chr7:100246000-100248200	Enhancers	Placenta	Placenta
17	chr7:100246200-100247600	Weak transcription	Esophagus	oesophagus
18	chr7:100246200-100247600	Weak transcription	K562	blood
19	chr7:100247200-100248200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:100247400-100248000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:100247400-100248000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:100247400-100248000	Active TSS	Spleen	Spleen
23	chr7:100247600-100247800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:100247600-100247800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:100247600-100248000	Bivalent Enhancer	HepG2	liver
26	chr7:100247600-100248200	Enhancers	Esophagus	oesophagus
27	chr7:100247600-100248200	Enhancers	K562	blood
28	chr7:100247800-100248000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:100247800-100248000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr7:100247800-100248000	Bivalent Enhancer	Fetal Lung	lung
31	chr7:100247800-100248000	Enhancers	Pancreas	Pancrea
32	chr7:100247800-100248200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:100247800-100248200	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr7:100248000-100248200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
35	chr7:100248200-100250600	Weak transcription	K562	blood
36	chr7:100248200-100250800	Weak transcription	Placenta	Placenta
37	chr7:100248200-100252400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:100248200-100252400	Weak transcription	Fetal Brain Female	brain
39	chr7:100249800-100252600	Weak transcription	Brain Germinal Matrix	brain

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