Variant report

Variant	esv18348
Chromosome Location	chr7:98740131-98741285
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98739979..98741519-chr7:99062135..99063958,2	K562	blood:
2	chr7:98739614..98743126-chr7:98922770..98926033,5	MCF-7	breast:
3	chr7:98678288..98682057-chr7:98738982..98742511,4	MCF-7	breast:
4	chr7:98738717..98741614-chr7:98773276..98775542,2	K562	blood:
5	chr10:126480012..126480539-chr7:98741134..98741832,2	Hela-S3	cervix:
6	chr1:212032006..212034997-chr7:98739173..98741161,3	MCF-7	breast:
7	chr7:98740149..98740762-chr8:104426797..104427597,2	Hela-S3	cervix:
8	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
9	chr7:98740238..98742349-chr7:98859373..98862218,2	MCF-7	breast:
10	chr7:98729782..98731427-chr7:98738611..98740186,2	MCF-7	breast:
11	chr7:98666324..98669111-chr7:98738998..98741505,2	MCF-7	breast:
12	chr7:98725464..98728251-chr7:98738859..98741076,3	K562	blood:
13	chr7:98738431..98740200-chr7:98866049..98867571,2	MCF-7	breast:
14	chr7:98740498..98742801-chr7:98868578..98871943,3	MCF-7	breast:
15	chr7:98645170..98647801-chr7:98738848..98740476,2	MCF-7	breast:
16	chr7:26240253..26241081-chr7:98741273..98742046,2	Hela-S3	cervix:
17	chr7:98685362..98687722-chr7:98738938..98740939,2	K562	blood:
18	chr7:98739038..98741115-chr7:98797135..98798989,2	K562	blood:
19	chr7:98739982..98741583-chr7:99034501..99036509,2	K562	blood:
20	chr16:70557729..70558362-chr7:98741012..98741830,2	Hela-S3	cervix:
21	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:
22	chr7:98739456..98741292-chr7:98918688..98921036,2	MCF-7	breast:
23	chr7:98738519..98741248-chr7:98774626..98776239,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000248919	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000164933	chromatin interactions
ENSG00000002079	chromatin interactions
ENSG00000185467	chromatin interactions
ENSG00000258539	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000203791	chromatin interactions
ENSG00000164934	chromatin interactions
ENSG00000160917	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000241468	chromatin interactions
ENSG00000198742	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12537900	chr7:98740164-98740165	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs535666236	chr7:98740173-98740174	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs114015819	chr7:98740194-98740195	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs562726154	chr7:98740231-98740232	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs372379213	chr7:98740418-98740419	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs34504241	chr7:98740485-98740486	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs34309284	chr7:98740488-98740489	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs35393768	chr7:98740567-98740568	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs35085588	chr7:98740568-98740569	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs140615805	chr7:98740579-98740580	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs569415773	chr7:98740588-98740589	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs536794952	chr7:98740629-98740630	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs190992847	chr7:98740636-98740637	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs558610625	chr7:98740677-98740678	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs116564446	chr7:98740727-98740728	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs57831952	chr7:98740734-98740735	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs534590766	chr7:98740770-98740771	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs56736699	chr7:98740801-98740802	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574641123	chr7:98740838-98740839	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs545843463	chr7:98740854-98740855	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs114540985	chr7:98740877-98740878	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs563429882	chr7:98740914-98740915	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs575508316	chr7:98740950-98740951	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs546351917	chr7:98741008-98741009	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs564580888	chr7:98741011-98741012	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs528496107	chr7:98741016-98741017	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs540584295	chr7:98741019-98741020	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs138076550	chr7:98741043-98741044	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs12535829	chr7:98741057-98741058	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs550857622	chr7:98741102-98741103	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs187732138	chr7:98741138-98741139	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs369927887	chr7:98741139-98741140	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs200944799	chr7:98741174-98741175	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Cancer	20164920	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98736000-98741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98737600-98740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:98738400-98740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:98738600-98740200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr7:98738600-98740200	Flanking Active TSS	Liver	Liver
6	chr7:98738600-98740400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:98738600-98740600	Enhancers	Fetal Heart	heart
8	chr7:98738600-98742000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:98738600-98742000	Active TSS	Brain Hippocampus Middle	brain
10	chr7:98738600-98742400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:98738600-98742400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:98738600-98742400	Active TSS	Aorta	Aorta
13	chr7:98738600-98742400	Active TSS	Ovary	ovary
14	chr7:98738800-98740200	Flanking Active TSS	HUVEC	blood vessel
15	chr7:98738800-98741000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr7:98738800-98741000	Active TSS	Right Atrium	heart
17	chr7:98738800-98742000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:98738800-98742000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:98738800-98742000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:98738800-98742000	Active TSS	HMEC	breast
21	chr7:98738800-98742000	Active TSS	HSMM	muscle
22	chr7:98738800-98742000	Active TSS	HSMMtube	muscle
23	chr7:98738800-98742000	Active TSS	NHDF-Ad	bronchial
24	chr7:98738800-98742200	Active TSS	NHLF	lung
25	chr7:98738800-98742400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:98738800-98742600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:98739000-98740200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr7:98739000-98740400	Enhancers	Small Intestine	intestine
29	chr7:98739000-98740600	Active TSS	Stomach Mucosa	stomach
30	chr7:98739000-98740800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:98739000-98741000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:98739000-98742000	Active TSS	NHEK	skin
33	chr7:98739000-98742200	Active TSS	Brain Anterior Caudate	brain
34	chr7:98739000-98742400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr7:98739000-98742600	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:98739200-98740200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr7:98739200-98740200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:98739200-98740200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:98739200-98740200	Flanking Active TSS	Hela-S3	cervix
40	chr7:98739200-98740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:98739200-98740800	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:98739200-98742000	Active TSS	HepG2	liver
43	chr7:98739200-98742200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:98739200-98742200	Active TSS	Brain Angular Gyrus	brain
45	chr7:98739200-98742200	Active TSS	Colonic Mucosa	Colon
46	chr7:98739200-98743200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:98739400-98740200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:98739400-98740200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:98739400-98740200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:98739400-98740200	Flanking Active TSS	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links