Variant report

Variant	esv1010248
Chromosome Location	chr7:38263319-38270209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38263678..38267697-chr7:38270258..38274189,5	K562	blood:
2	chr7:38262524..38265185-chr7:38273332..38275255,2	K562	blood:
3	chr7:38262120..38263756-chr7:38264423..38267221,2	K562	blood:
4	chr7:38268103..38269784-chr7:38382757..38385051,2	K562	blood:
5	chr7:38262120..38263756-chr7:38264423..38267221,2	K562	blood:
6	chr7:38268526..38271338-chr7:38351636..38353674,2	K562	blood:
7	chr7:38269978..38272526-chr7:38377435..38379545,2	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67855855	chr7:38263344-38263345	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377092390	chr7:38263346-38263347	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540718472	chr7:38263376-38263377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181815150	chr7:38263387-38263388	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576793564	chr7:38263425-38263426	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545815526	chr7:38263454-38263455	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562572503	chr7:38263460-38263461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373447453	chr7:38263463-38263464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186499467	chr7:38263548-38263549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556056729	chr7:38263601-38263602	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542200781	chr7:38263658-38263659	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71546634	chr7:38263681-38263682	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35223012	chr7:38263820-38263821	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562307336	chr7:38263984-38263985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190486339	chr7:38263994-38263995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139594279	chr7:38264017-38264018	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570575271	chr7:38264072-38264073	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532926437	chr7:38264096-38264097	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183405493	chr7:38264135-38264136	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187169447	chr7:38264140-38264141	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535729004	chr7:38264141-38264142	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555421186	chr7:38264174-38264175	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370971721	chr7:38264198-38264199	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145006879	chr7:38264199-38264200	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534533581	chr7:38264311-38264312	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553822557	chr7:38264342-38264343	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115418943	chr7:38264350-38264351	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201544784	chr7:38264407-38264408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556131891	chr7:38264446-38264447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147152508	chr7:38264479-38264480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139617580	chr7:38264551-38264552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77135253	chr7:38264556-38264557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577717007	chr7:38264576-38264577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376143510	chr7:38264625-38264626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536113690	chr7:38264627-38264628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149748157	chr7:38264631-38264632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114343556	chr7:38264643-38264644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145542119	chr7:38264644-38264645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549941362	chr7:38264716-38264717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563268845	chr7:38264717-38264718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528884941	chr7:38264734-38264735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535123207	chr7:38264769-38264770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560370762	chr7:38264770-38264771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148882974	chr7:38264781-38264782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565858240	chr7:38264783-38264784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551419611	chr7:38264792-38264793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534947733	chr7:38264840-38264841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191103747	chr7:38264861-38264862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62443341	chr7:38264899-38264900	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs183408549	chr7:38264926-38264927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
small cell lung cancer	20016488	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Gastrointestinal stromal cancer	20818650	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
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Multiple sclerosis	20428171	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38238600-38268800	Weak transcription	Esophagus	oesophagus
2	chr7:38251600-38270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:38251800-38270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:38252000-38272400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:38252000-38273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:38253800-38267400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:38255000-38268800	Weak transcription	Gastric	stomach
8	chr7:38255400-38264800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:38255400-38267400	Weak transcription	Stomach Mucosa	stomach
10	chr7:38255400-38271800	Weak transcription	Small Intestine	intestine
11	chr7:38255600-38264600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:38255600-38268600	Weak transcription	Pancreas	Pancrea
13	chr7:38255800-38264400	Strong transcription	GM12878-XiMat	blood
14	chr7:38256000-38263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:38256000-38264400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:38256200-38264400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:38256200-38264400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:38256200-38265400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:38256200-38268800	Strong transcription	HSMM	muscle
20	chr7:38256400-38264400	Strong transcription	Fetal Lung	lung
21	chr7:38256400-38264400	Strong transcription	Fetal Stomach	stomach
22	chr7:38256400-38264600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:38256400-38264600	Strong transcription	HUVEC	blood vessel
24	chr7:38256600-38266000	Weak transcription	Psoas Muscle	Psoas
25	chr7:38257200-38268600	Weak transcription	HepG2	liver
26	chr7:38257400-38264400	Strong transcription	Fetal Kidney	kidney
27	chr7:38257600-38270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:38257800-38270800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:38258000-38268800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:38259600-38263800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:38259600-38273800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:38259800-38263800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:38259800-38266000	Weak transcription	Colonic Mucosa	Colon
34	chr7:38259800-38266000	Weak transcription	Lung	lung
35	chr7:38259800-38268800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:38260000-38268400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:38260000-38269000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:38260200-38266000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:38260200-38268600	Weak transcription	NHEK	skin
40	chr7:38260200-38269600	Weak transcription	Fetal Heart	heart
41	chr7:38260400-38265400	Weak transcription	Right Ventricle	heart
42	chr7:38260400-38266200	Weak transcription	Ovary	ovary
43	chr7:38260400-38268000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:38260400-38268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:38260400-38271600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:38260400-38273800	Weak transcription	Fetal Brain Male	brain
47	chr7:38260600-38264000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:38260600-38268800	Weak transcription	Brain Germinal Matrix	brain
49	chr7:38260800-38263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:38261400-38264600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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