Variant report

Variant	esv2764032
Chromosome Location	chr7:111938590-111963829
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111963557..111967020-chr7:111968697..111972390,4	K562	blood:
2	chr7:111953427..111955871-chr7:111961966..111964536,3	K562	blood:
3	chr7:111947172..111951025-chr7:111951049..111954206,4	K562	blood:
4	chr7:111941371..111945236-chr7:112089407..112092066,3	K562	blood:
5	chr7:111955858..111957422-chr7:111959374..111961415,2	MCF-7	breast:
6	chr7:111935052..111937949-chr7:111944380..111946424,2	K562	blood:
7	chr7:111930275..111932583-chr7:111961875..111964299,2	K562	blood:
8	chr7:111960085..111962357-chr7:111965697..111968570,2	K562	blood:
9	chr7:111921593..111923966-chr7:111958978..111961441,2	MCF-7	breast:
10	chr7:111950152..111953153-chr7:111955660..111958299,4	K562	blood:
11	chr7:111935565..111938223-chr7:111940915..111942865,2	K562	blood:
12	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:
13	chr7:111953427..111955871-chr7:111961966..111964536,3	K562	blood:
14	chr7:111950152..111953153-chr7:111955660..111958299,4	K562	blood:
15	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:
16	chr7:111955858..111957422-chr7:111959374..111961415,2	MCF-7	breast:
17	chr7:111949931..111951481-chr7:111969749..111972732,2	K562	blood:
18	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:
19	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:
20	chr7:111947172..111951025-chr7:111951049..111954206,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions

Extended variants
information (count: 866 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572371929	chr7:111938639-111938640	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138875552	chr7:111938649-111938650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3948719	chr7:111938673-111938674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558161616	chr7:111938674-111938675	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188483189	chr7:111938715-111938716	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543751627	chr7:111938722-111938723	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142747852	chr7:111938732-111938733	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573906453	chr7:111938745-111938746	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193105234	chr7:111938810-111938811	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560010802	chr7:111938825-111938826	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368397204	chr7:111938828-111938829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147387563	chr7:111938831-111938832	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184664803	chr7:111938884-111938885	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114833235	chr7:111938892-111938893	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564150709	chr7:111938929-111938930	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186808830	chr7:111938955-111938956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137883948	chr7:111938982-111938983	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568223000	chr7:111938992-111938993	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529117373	chr7:111939091-111939092	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550815168	chr7:111939108-111939109	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566020348	chr7:111939112-111939113	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539958326	chr7:111939162-111939163	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557862810	chr7:111939258-111939259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570033976	chr7:111939266-111939267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537306650	chr7:111939267-111939268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555655763	chr7:111939280-111939281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191184965	chr7:111939365-111939366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541201783	chr7:111939373-111939374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184111069	chr7:111939501-111939502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572034517	chr7:111939557-111939558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545932793	chr7:111939560-111939561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563881498	chr7:111939603-111939604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189643561	chr7:111939638-111939639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543709934	chr7:111939640-111939641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561984626	chr7:111939653-111939654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529233405	chr7:111939722-111939723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570501462	chr7:111939764-111939765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181172051	chr7:111939767-111939768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17159440	chr7:111939768-111939769	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576162941	chr7:111939794-111939795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535312514	chr7:111939839-111939840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143392420	chr7:111939855-111939856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111871616	chr7:111939865-111939866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569916634	chr7:111939868-111939869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185210713	chr7:111939897-111939898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56341778	chr7:111939898-111939899	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569077323	chr7:111939924-111939925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143882201	chr7:111939935-111939936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138497529	chr7:111940033-111940034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553289420	chr7:111940093-111940094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	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
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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
5	chr7:111920600-111942200	Weak transcription	HepG2	liver
6	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:111922400-111949800	Weak transcription	Ovary	ovary
9	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
10	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
12	chr7:111923600-111964800	Weak transcription	Gastric	stomach
13	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
14	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:111926600-111938600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:111926600-111942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
18	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:111926800-111942800	Weak transcription	Fetal Kidney	kidney
21	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
25	chr7:111926800-111964800	Weak transcription	Lung	lung
26	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
27	chr7:111927400-111938600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:111927400-111940000	Weak transcription	Brain Germinal Matrix	brain
29	chr7:111927400-111945800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
31	chr7:111928600-111947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:111928800-111938600	Weak transcription	Left Ventricle	heart
34	chr7:111928800-111942200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:111928800-111946600	Weak transcription	Brain Substantia Nigra	brain
36	chr7:111928800-111949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:111928800-111949800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:111928800-111950000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
40	chr7:111929000-111938600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:111929000-111940000	Weak transcription	Fetal Brain Male	brain
42	chr7:111929000-111947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:111929000-111948800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:111929000-111949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:111929000-111949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:111929000-111949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
48	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
49	chr7:111929200-111949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:111929600-111941800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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