Variant report

Variant	esv3326421
Chromosome Location	chr7:107238616-107240864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:107239111-107239157	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFF	chr7:107238543-107238760	K562	blood:	n/a	n/a
3	MAFF	chr7:107238473-107238735	HepG2	liver:	n/a	n/a
4	MAFK	chr7:107238438-107238736	HepG2	liver:	n/a	n/a
5	MAFK	chr7:107238505-107238744	IMR90	lung:	n/a	n/a
6	MAFK	chr7:107238456-107238737	HepG2	liver:	n/a	n/a
7	MAFK	chr7:107238575-107238643	K562	blood:	n/a	n/a
8	POLR2A	chr7:107238620-107238725	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr7:107240401-107240713	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr7:107239907-107240084	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107236060..107238054-chr7:107239642..107242554,2	K562	blood:
2	chr7:107236873..107239093-chr7:107263842..107266780,2	MCF-7	breast:
3	chr7:107219418..107222356-chr7:107237027..107239369,2	MCF-7	breast:
4	chr7:107237613..107240026-chr7:107244497..107246419,2	K562	blood:
5	chr7:107170354..107171870-chr7:107238486..107240172,2	K562	blood:
6	chr7:107240582..107242990-chr7:107247762..107249793,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUS4L-2	chr7:107240842-107240880	NONHSAT122691

No data

Variant related genes	Relation type
ENSG00000238832	TF binding region
ENSG00000272854	chromatin interactions
ENSG00000075790	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191526302	chr7:107238728-107238729	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34936998	chr7:107238745-107238746	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547513146	chr7:107238746-107238747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150033612	chr7:107238752-107238753	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549622013	chr7:107238765-107238766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs137954085	chr7:107238782-107238783	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376910097	chr7:107238783-107238784	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538426168	chr7:107238792-107238793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143917523	chr7:107238936-107238937	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs62483729	chr7:107238950-107238951	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534238687	chr7:107238952-107238953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182339577	chr7:107238968-107238969	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148226497	chr7:107238985-107238986	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548520191	chr7:107239006-107239007	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146575953	chr7:107239151-107239152	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs376178353	chr7:107239152-107239153	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59871171	chr7:107239155-107239156	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs542679551	chr7:107239198-107239199	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372982736	chr7:107239201-107239202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555615796	chr7:107239335-107239336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566860531	chr7:107239340-107239341	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs71134272	chr7:107239350-107239351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376252633	chr7:107239364-107239365	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs59376183	chr7:107239366-107239367	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369229864	chr7:107239368-107239369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575485853	chr7:107239399-107239400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200430275	chr7:107239447-107239448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543994967	chr7:107239448-107239449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374278047	chr7:107239456-107239457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563889008	chr7:107239548-107239549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186644584	chr7:107239559-107239560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192621281	chr7:107239595-107239596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71540984	chr7:107239615-107239616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61426760	chr7:107239634-107239635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11760908	chr7:107239645-107239646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61332689	chr7:107239655-107239656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60442346	chr7:107239662-107239663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11764508	chr7:107239663-107239664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs55741564	chr7:107239667-107239668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs58557065	chr7:107239673-107239674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12386678	chr7:107239678-107239679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12386679	chr7:107239691-107239692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71134273	chr7:107239692-107239693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12386681	chr7:107239715-107239716	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12386626	chr7:107239717-107239718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372271857	chr7:107239727-107239728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539904743	chr7:107239728-107239729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377639451	chr7:107239730-107239731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112818681	chr7:107239734-107239735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11767641	chr7:107239740-107239741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107221200-107272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:107221400-107253800	Weak transcription	Ovary	ovary
3	chr7:107221400-107254200	Weak transcription	Thymus	Thymus
4	chr7:107221400-107256400	Weak transcription	Lung	lung
5	chr7:107221400-107272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:107221400-107276000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:107221600-107254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:107221800-107243200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:107221800-107243400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:107221800-107249400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:107222000-107242000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:107222400-107241600	Weak transcription	Colonic Mucosa	Colon
13	chr7:107222400-107242200	Weak transcription	HepG2	liver
14	chr7:107222400-107258200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:107223000-107254400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:107223200-107240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:107223400-107256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:107223600-107254400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:107223600-107256600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:107225600-107254000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:107226200-107254000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:107226800-107254200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:107226800-107254800	Weak transcription	Fetal Thymus	thymus
24	chr7:107227800-107253800	Weak transcription	Brain Angular Gyrus	brain
25	chr7:107227800-107265400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:107229400-107245800	Weak transcription	Right Ventricle	heart
27	chr7:107229600-107249600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:107230200-107256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:107233600-107256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:107234200-107246200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:107234400-107239200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:107234400-107239200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:107234400-107244800	Strong transcription	Placenta	Placenta
34	chr7:107234600-107238800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:107234600-107238800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:107235200-107271800	Weak transcription	Small Intestine	intestine
37	chr7:107235800-107245800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:107235800-107247400	Weak transcription	Fetal Stomach	stomach
39	chr7:107235800-107249400	Weak transcription	Aorta	Aorta
40	chr7:107235800-107254000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:107235800-107254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:107235800-107268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:107236000-107240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:107236000-107240800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:107236000-107240800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:107236000-107241000	Weak transcription	Brain Substantia Nigra	brain
47	chr7:107236000-107241200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:107236000-107241400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:107236000-107245400	Weak transcription	Fetal Brain Female	brain
50	chr7:107236000-107245800	Weak transcription	Fetal Brain Male	brain

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