Variant report

Variant	esv3478315
Chromosome Location	chr7:100397212-100399055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100398724..100401678-chr7:100401884..100405733,4	MCF-7	breast:
2	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
3	chr7:100398157..100400014-chr7:100422584..100424999,9	MCF-7	breast:
4	chr7:100395722..100399460-chr7:100448041..100450326,3	K562	blood:
5	chr7:100388495..100393030-chr7:100395666..100399292,5	MCF-7	breast:
6	chr7:100368895..100370720-chr7:100398110..100400300,2	K562	blood:
7	chr7:100398318..100400624-chr7:100418160..100420117,2	K562	blood:
8	chr7:100396372..100398023-chr7:100449385..100450466,7	K562	blood:
9	chr7:100303631..100305355-chr7:100397590..100399187,2	MCF-7	breast:
10	chr7:100396790..100397748-chr7:100449511..100450243,3	MCF-7	breast:
11	chr7:100394911..100396702-chr7:100397930..100402175,4	K562	blood:
12	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
13	chr7:100393512..100397050-chr7:100397578..100401575,4	MCF-7	breast:
14	chr7:100397181..100400945-chr7:100448287..100452059,6	MCF-7	breast:
15	chr7:100398052..100401560-chr7:100421324..100424929,6	K562	blood:
16	chr7:100397131..100401611-chr7:100484722..100488354,5	MCF-7	breast:
17	chr7:100396723..100397558-chr7:100423449..100424411,5	MCF-7	breast:
18	chr7:100026015..100028252-chr7:100398886..100401457,2	K562	blood:
19	chr7:100394796..100404152-chr7:100420595..100427156,30	MCF-7	breast:
20	chr7:100398915..100401740-chr7:100464391..100466395,2	MCF-7	breast:
21	chr7:100395682..100398550-chr7:100487291..100488831,2	K562	blood:
22	chr7:100396860..100402994-chr7:100420596..100426493,12	MCF-7	breast:
23	chr7:100399055..100403429-chr7:100463103..100465851,4	MCF-7	breast:
24	chr7:100396968..100399232-chr7:100399904..100402635,3	K562	blood:
25	chr7:100301814..100305937-chr7:100395370..100399067,4	K562	blood:
26	chr7:100396999..100399481-chr7:100432100..100434547,2	MCF-7	breast:
27	chr7:100395722..100403808-chr7:100446660..100452489,13	K562	blood:
28	chr7:100397049..100397573-chr7:100720945..100721487,2	K562	blood:
29	chr7:100398509..100403276-chr7:100410135..100416305,9	MCF-7	breast:
30	chr7:100389809..100393337-chr7:100395699..100399454,7	MCF-7	breast:
31	chr7:100396962..100397696-chr7:100449176..100450349,3	MCF-7	breast:
32	chr7:100395512..100400590-chr7:100483994..100490629,8	K562	blood:
33	chr7:100398973..100399474-chr7:100462806..100463743,2	MCF-7	breast:
34	chr7:100395749..100397621-chr7:100448376..100451334,2	MCF-7	breast:
35	chr7:100397305..100400586-chr7:100409020..100412104,3	K562	blood:
36	chr7:100394642..100397272-chr7:100423099..100424771,2	K562	blood:
37	chr7:100319576..100322114-chr7:100397770..100400557,3	MCF-7	breast:
38	chr7:100398804..100401512-chr7:100476210..100478233,3	MCF-7	breast:
39	chr7:100398877..100402818-chr7:100471202..100474320,4	MCF-7	breast:
40	chr7:100395758..100398887-chr7:100432685..100435250,3	K562	blood:
41	chr7:100395700..100398001-chr7:100459019..100461683,2	K562	blood:
42	chr7:100397084..100399462-chr7:100416639..100419126,2	K562	blood:
43	chr7:100398769..100401112-chr7:100407441..100409562,2	MCF-7	breast:
44	chr7:100397602..100400701-chr7:100463171..100467271,4	K562	blood:
45	chr7:100397602..100400529-chr7:100463171..100466145,2	K562	blood:
46	chr7:100398521..100399152-chr7:100449312..100450211,3	K562	blood:
47	chr7:100395777..100398159-chr7:100465116..100466979,2	MCF-7	breast:
48	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
49	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
50	chr7:100398676..100402755-chr7:100422988..100426913,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000087087	chromatin interactions
ENSG00000263672	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000146834	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562966218	chr7:100397224-100397225	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs531696887	chr7:100397288-100397289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs147291303	chr7:100397291-100397292	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs314345	chr7:100397327-100397328	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140936999	chr7:100397390-100397391	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs557649775	chr7:100397391-100397392	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs372839156	chr7:100397414-100397415	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs566367871	chr7:100397426-100397427	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs186022741	chr7:100397427-100397428	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs60224425	chr7:100397430-100397431	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs60720150	chr7:100397440-100397441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149473191	chr7:100397464-100397465	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs143953581	chr7:100397475-100397476	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs556154983	chr7:100397486-100397487	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs78784906	chr7:100397532-100397533	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs563942754	chr7:100397536-100397537	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs75657967	chr7:100397568-100397569	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs560666128	chr7:100397601-100397602	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs369367492	chr7:100397654-100397655	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs531596680	chr7:100397700-100397701	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs112990431	chr7:100397828-100397829	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs71890056	chr7:100397830-100397831	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs57054889	chr7:100397833-100397834	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs575873258	chr7:100397867-100397868	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs531863996	chr7:100397888-100397889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs549825692	chr7:100397920-100397921	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs571646474	chr7:100397940-100397941	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs533064640	chr7:100397949-100397950	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs551698698	chr7:100397956-100397957	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs201838323	chr7:100397968-100397969	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs57774573	chr7:100397977-100397978	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs372797908	chr7:100397999-100398000	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs533707626	chr7:100398027-100398028	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs555167595	chr7:100398035-100398036	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs148650433	chr7:100398071-100398072	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs537980560	chr7:100398121-100398122	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs114036033	chr7:100398125-100398126	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs573830355	chr7:100398143-100398144	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs562874513	chr7:100398175-100398176	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs371658156	chr7:100398204-100398205	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs377593331	chr7:100398252-100398253	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs530069533	chr7:100398260-100398261	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs544682645	chr7:100398278-100398279	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs554463284	chr7:100398281-100398282	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs116464597	chr7:100398286-100398287	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs181147647	chr7:100398314-100398315	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs567239630	chr7:100398365-100398366	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs561493994	chr7:100398374-100398375	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs531693824	chr7:100398410-100398411	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs186793641	chr7:100398416-100398417	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
2	chr7:100392000-100398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:100392200-100398800	Weak transcription	Gastric	stomach
4	chr7:100392200-100399600	Weak transcription	NH-A	brain
5	chr7:100392400-100399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:100392400-100400000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:100392600-100399800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:100392800-100400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:100393000-100399600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100393000-100399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:100393000-100400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:100393000-100400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:100394400-100397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:100394800-100399800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:100396000-100397600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:100396000-100399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:100396000-100400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:100396000-100400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:100396200-100397400	Enhancers	Primary B cells from cord blood	blood
20	chr7:100396200-100397800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:100396200-100399400	Enhancers	HepG2	liver
22	chr7:100396200-100400200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:100396200-100401800	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:100396400-100397400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:100396400-100397600	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:100396400-100397800	Enhancers	Fetal Muscle Leg	muscle
27	chr7:100396400-100399600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:100396600-100397400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:100396600-100397400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:100396600-100397400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:100396600-100397600	Enhancers	Fetal Thymus	thymus
32	chr7:100396600-100398600	Enhancers	Spleen	Spleen
33	chr7:100396600-100398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:100396600-100398800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:100396800-100397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:100396800-100397600	Enhancers	HSMM	muscle
37	chr7:100396800-100398000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:100396800-100399000	Enhancers	HUVEC	blood vessel
39	chr7:100397000-100397400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:100397000-100397400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr7:100397000-100397600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:100397000-100397600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:100397000-100397800	Enhancers	Fetal Intestine Small	intestine
44	chr7:100397000-100398000	Enhancers	Fetal Intestine Large	intestine
45	chr7:100397000-100398000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr7:100397000-100398200	Enhancers	Hela-S3	cervix
47	chr7:100397000-100398600	Weak transcription	Fetal Heart	heart
48	chr7:100397000-100398800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr7:100397000-100399400	Enhancers	K562	blood
50	chr7:100397000-100399600	Enhancers	A549	lung

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