Variant report

Variant	esv3407409
Chromosome Location	chr7:117503766-117506314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117501417..117503839-chr7:117507351..117508870,2	K562	blood:
2	7:116651084-116657331..7:117504074-117506603	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000004866	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551988183	chr7:117503779-117503780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570505640	chr7:117503781-117503782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537516410	chr7:117503802-117503803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549865094	chr7:117503901-117503902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10259910	chr7:117503982-117503983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535448318	chr7:117504030-117504031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573579739	chr7:117504153-117504154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189767723	chr7:117504158-117504159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567214672	chr7:117504255-117504256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534373558	chr7:117504266-117504267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34693983	chr7:117504380-117504381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577388927	chr7:117504419-117504420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544343402	chr7:117504491-117504492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375264323	chr7:117504512-117504513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556627446	chr7:117504539-117504540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141445593	chr7:117504547-117504548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35168569	chr7:117504581-117504582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560006216	chr7:117504667-117504668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527609037	chr7:117504691-117504692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71544784	chr7:117504701-117504702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187764997	chr7:117504710-117504711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372762761	chr7:117504715-117504716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146332752	chr7:117504723-117504724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59347269	chr7:117504732-117504733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144415644	chr7:117504733-117504734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56920006	chr7:117504735-117504736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149864664	chr7:117504742-117504743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145455897	chr7:117504743-117504744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568196294	chr7:117504750-117504751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528889460	chr7:117504752-117504753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547453594	chr7:117504753-117504754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55838857	chr7:117504757-117504758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573204175	chr7:117504827-117504828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71150638	chr7:117504849-117504850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs68058541	chr7:117504852-117504853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193213063	chr7:117504854-117504855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112812110	chr7:117504856-117504857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6958444	chr7:117504868-117504869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13310629	chr7:117504873-117504874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541401734	chr7:117504878-117504879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183576573	chr7:117504880-117504881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188572470	chr7:117505119-117505120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192796384	chr7:117505131-117505132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556378726	chr7:117505154-117505155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535411474	chr7:117505263-117505264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544468560	chr7:117505264-117505265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574631904	chr7:117505294-117505295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184135883	chr7:117505295-117505296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187007173	chr7:117505388-117505389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541806043	chr7:117505392-117505393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117469400-117503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:117469600-117511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:117475600-117506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:117484200-117503800	Weak transcription	Fetal Kidney	kidney
5	chr7:117484400-117510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:117489400-117503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:117489400-117511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:117490400-117508000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:117490400-117508000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:117496400-117503800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:117501400-117504000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:117501400-117504400	Enhancers	Fetal Brain Male	brain
13	chr7:117501400-117507400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:117501400-117507600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:117501600-117503800	Enhancers	Fetal Intestine Small	intestine
16	chr7:117501600-117506400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:117501600-117507400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:117501800-117504400	Enhancers	Brain Substantia Nigra	brain
19	chr7:117501800-117504600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:117502000-117504400	Enhancers	Brain Angular Gyrus	brain
21	chr7:117502000-117505400	Enhancers	Brain Anterior Caudate	brain
22	chr7:117502200-117503800	Weak transcription	Fetal Stomach	stomach
23	chr7:117502400-117510000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:117502400-117511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:117502400-117511800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:117502600-117504000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:117502600-117504000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:117502600-117504400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:117502800-117508800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:117502800-117511800	Weak transcription	Pancreas	Pancrea
31	chr7:117503000-117504600	Enhancers	Brain Hippocampus Middle	brain
32	chr7:117503200-117503800	Weak transcription	Fetal Heart	heart
33	chr7:117503400-117503800	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:117503400-117504000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:117503400-117504000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:117503400-117504400	Enhancers	Fetal Brain Female	brain
37	chr7:117503600-117503800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:117503600-117504000	Enhancers	Aorta	Aorta
39	chr7:117503600-117504000	Enhancers	Colon Smooth Muscle	Colon
40	chr7:117503600-117504200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:117503600-117504200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:117503600-117504400	Enhancers	NHLF	lung
43	chr7:117503600-117504600	Enhancers	Fetal Lung	lung
44	chr7:117503800-117504000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:117503800-117504000	Enhancers	Fetal Heart	heart
46	chr7:117503800-117504200	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:117503800-117504400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:117503800-117504400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:117503800-117504600	Enhancers	Fetal Stomach	stomach
50	chr7:117503800-117510600	Weak transcription	Rectal Smooth Muscle	rectum

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