Variant report

Variant	esv3477533
Chromosome Location	chr7:140193112-140202616
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140177918..140179517-chr7:140199453..140201506,2	MCF-7	breast:
2	chr7:140177025..140179254-chr7:140191554..140194261,2	K562	blood:
3	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
4	chr7:140175277..140176182-chr7:140192249..140193505,5	MCF-7	breast:
5	chr7:140177802..140179914-chr7:140192649..140195054,2	MCF-7	breast:
6	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
7	chr7:140177655..140180336-chr7:140200057..140202817,2	MCF-7	breast:
8	chr7:140175249..140176269-chr7:140192550..140193514,8	K562	blood:
9	chr7:140177440..140179360-chr7:140192962..140194522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133606	chromatin interactions

Extended variants
information (count: 417 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531837731	chr7:140193119-140193120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373446272	chr7:140193136-140193137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575780812	chr7:140193149-140193150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543794877	chr7:140193150-140193151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543413323	chr7:140193155-140193156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7777753	chr7:140193159-140193160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs386718470	chr7:140193188-140193189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548140978	chr7:140193189-140193190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368263127	chr7:140193193-140193194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs386718471	chr7:140193194-140193195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7792629	chr7:140193198-140193199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4726837	chr7:140193213-140193214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570410785	chr7:140193225-140193226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146952387	chr7:140193261-140193262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7806816	chr7:140193293-140193294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs386718472	chr7:140193329-140193330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111274442	chr7:140193330-140193331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7792790	chr7:140193331-140193332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553691808	chr7:140193362-140193363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112070978	chr7:140193370-140193371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191890537	chr7:140193373-140193374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557944312	chr7:140193413-140193414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113450539	chr7:140193416-140193417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186482747	chr7:140193428-140193429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561917434	chr7:140193449-140193450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189683124	chr7:140193478-140193479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541739743	chr7:140193583-140193584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560040716	chr7:140193584-140193585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151194944	chr7:140193586-140193587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7783010	chr7:140193615-140193616	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546879482	chr7:140193629-140193630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182299925	chr7:140193673-140193674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531286933	chr7:140193681-140193682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568213801	chr7:140193693-140193694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374837351	chr7:140193705-140193706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187135323	chr7:140193712-140193713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535126104	chr7:140193765-140193766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35901185	chr7:140193799-140193800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575419736	chr7:140193800-140193801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12536163	chr7:140193813-140193814	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546994961	chr7:140193856-140193857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367907879	chr7:140193864-140193865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10952698	chr7:140193871-140193872	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374396250	chr7:140193874-140193875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557641616	chr7:140193900-140193901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576219264	chr7:140193948-140193949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537137740	chr7:140194025-140194026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10952699	chr7:140194030-140194031	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs80331552	chr7:140194049-140194050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541395955	chr7:140194078-140194079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140185400-140197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:140185800-140198000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:140189000-140194800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:140189200-140194600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:140192200-140206800	Weak transcription	Right Atrium	heart
7	chr7:140192800-140193600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr7:140192800-140193600	Enhancers	K562	blood
9	chr7:140193000-140206600	Weak transcription	Colonic Mucosa	Colon
10	chr7:140193600-140195400	Weak transcription	K562	blood
11	chr7:140193600-140198000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:140194600-140195600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:140194800-140195600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:140195400-140195800	Enhancers	Gastric	stomach
15	chr7:140195400-140196000	Enhancers	K562	blood
16	chr7:140196000-140201800	Weak transcription	K562	blood
17	chr7:140197000-140197400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:140197200-140197400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:140197800-140198200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:140198000-140198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:140198000-140198200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:140198200-140199400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:140198200-140202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:140198400-140202000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:140198400-140206400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:140200000-140202000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:140201600-140202200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:140201800-140202000	Enhancers	Ovary	ovary
31	chr7:140201800-140202200	Enhancers	Fetal Intestine Large	intestine
32	chr7:140201800-140202200	Enhancers	Left Ventricle	heart
33	chr7:140201800-140202200	Enhancers	K562	blood
34	chr7:140201800-140202400	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:140201800-140202400	Enhancers	Pancreas	Pancrea
36	chr7:140201800-140202400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:140202000-140202200	Enhancers	HSMMtube	muscle
38	chr7:140202000-140202400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:140202000-140202400	Enhancers	Stomach Mucosa	stomach
40	chr7:140202200-140202400	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:140202200-140202400	Enhancers	Fetal Muscle Leg	muscle
42	chr7:140202200-140206000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:140202200-140206200	Weak transcription	Left Ventricle	heart
44	chr7:140202200-140206200	Weak transcription	K562	blood
45	chr7:140202200-140206400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:140202200-140206800	Weak transcription	Fetal Intestine Large	intestine
47	chr7:140202400-140205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:140202400-140206200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:140202400-140206400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:140202400-140206600	Weak transcription	Pancreas	Pancrea

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