Variant report

Variant	nsv887962
Chromosome Location	chr7:38093233-38203341
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:38148352..38150982-chr7:38151151..38153252,2	K562	blood:
2	chr7:38093917..38096266-chr7:38097185..38099993,3	K562	blood:
3	chr7:38146765..38147691-chr7:38255215..38255987,3	MCF-7	breast:
4	chr7:38147106..38147689-chr7:38374934..38375856,4	MCF-7	breast:
5	chr7:37940575..37941460-chr7:38146776..38147514,2	K562	blood:
6	chr7:38093917..38096266-chr7:38097185..38099993,3	K562	blood:
7	chr7:37939928..37942634-chr7:38145732..38147603,2	K562	blood:
8	chr7:38109776..38112089-chr7:38114785..38117105,2	K562	blood:
9	chr7:37956819..37957340-chr7:38145576..38146133,2	MCF-7	breast:
10	chr7:38181468..38183815-chr7:38184434..38186257,2	K562	blood:
11	chr7:38094766..38098123-chr7:38098493..38101263,3	K562	blood:
12	chr7:38145207..38147736-chr7:38358126..38359354,12	MCF-7	breast:
13	chr7:38176758..38178798-chr7:38190298..38192828,2	K562	blood:
14	chr7:38146965..38147587-chr7:38385316..38385987,2	MCF-7	breast:
15	chr7:38147469..38148161-chr7:38261438..38262362,2	MCF-7	breast:
16	chr7:38146750..38147644-chr7:38255037..38256019,2	K562	blood:
17	chr7:38145292..38146218-chr7:38261831..38262510,3	K562	blood:
18	chr7:37941048..37942041-chr7:38145643..38146426,3	K562	blood:
19	chr7:38145396..38146142-chr7:38358527..38359113,2	MCF-7	breast:
20	chr7:38146737..38148304-chr7:38261624..38262803,9	K562	blood:
21	chr7:38109776..38112089-chr7:38114785..38117105,2	K562	blood:
22	chr7:37940510..37941425-chr7:38145712..38146344,3	MCF-7	breast:
23	chr7:38181468..38183815-chr7:38184434..38186257,2	K562	blood:
24	chr7:38148352..38150982-chr7:38151151..38153252,2	K562	blood:
25	chr7:38145578..38146176-chr7:38374997..38375584,2	MCF-7	breast:
26	chr7:38094766..38098123-chr7:38098493..38101263,3	K562	blood:
27	chr7:38176758..38178798-chr7:38190298..38192828,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249978	chromatin interactions
ENSG00000211695	chromatin interactions

Extended variants
information (count: 1368 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1524071	chr7:38093233-38093234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539837080	chr7:38093255-38093256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145816406	chr7:38093279-38093280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138440655	chr7:38093312-38093313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556069520	chr7:38093328-38093329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140878712	chr7:38093350-38093351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555533167	chr7:38093357-38093358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572337419	chr7:38093385-38093386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540700890	chr7:38093399-38093400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563858206	chr7:38093446-38093447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577181383	chr7:38093518-38093519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1721390	chr7:38093553-38093554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150126069	chr7:38093570-38093571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115876753	chr7:38093598-38093599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549047446	chr7:38093725-38093726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73691929	chr7:38093737-38093738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138375869	chr7:38093739-38093740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149247267	chr7:38093759-38093760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78957271	chr7:38093818-38093819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10229409	chr7:38093891-38093892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184577165	chr7:38093892-38093893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550148115	chr7:38093897-38093898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78960570	chr7:38093924-38093925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536130207	chr7:38093925-38093926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34441043	chr7:38093930-38093931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539276736	chr7:38093952-38093953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74723796	chr7:38093960-38093961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371743599	chr7:38094006-38094007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376541103	chr7:38094034-38094035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572274164	chr7:38094073-38094074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547780832	chr7:38094105-38094106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534900623	chr7:38094122-38094123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557389729	chr7:38094144-38094145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566039700	chr7:38094162-38094163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1721389	chr7:38094273-38094274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116014593	chr7:38094290-38094291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563284085	chr7:38094330-38094331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573586024	chr7:38094338-38094339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374012487	chr7:38094397-38094398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542881012	chr7:38094412-38094413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144575555	chr7:38094433-38094434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528255874	chr7:38094462-38094463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188499062	chr7:38094489-38094490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565126568	chr7:38094510-38094511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181279178	chr7:38094561-38094562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540705463	chr7:38094573-38094574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12666817	chr7:38094582-38094583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2392528	chr7:38094585-38094586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529290815	chr7:38094599-38094600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111749310	chr7:38094606-38094607	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Leukemia	23979775	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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38089600-38093800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:38091200-38094200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:38091600-38095000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:38091800-38093800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:38092800-38093800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:38093800-38094000	Enhancers	Pancreas	Pancrea
7	chr7:38093800-38094200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:38093800-38094200	Enhancers	Adipose Nuclei	Adipose
9	chr7:38093800-38094800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:38094000-38094600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:38094800-38095200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:38095200-38095400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:38095400-38098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:38098200-38098400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:38098400-38099000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:38099000-38099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:38100200-38100400	Enhancers	Psoas Muscle	Psoas
18	chr7:38100400-38102000	Weak transcription	Psoas Muscle	Psoas
19	chr7:38101600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:38102000-38102600	Enhancers	Psoas Muscle	Psoas
21	chr7:38107400-38107600	Enhancers	HSMMtube	muscle
22	chr7:38107600-38107800	Enhancers	K562	blood
23	chr7:38107800-38108400	Weak transcription	HSMMtube	muscle
24	chr7:38107800-38108400	Weak transcription	K562	blood
25	chr7:38108000-38108800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:38108400-38108600	Enhancers	HSMMtube	muscle
27	chr7:38108400-38108600	Enhancers	K562	blood
28	chr7:38108400-38109000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:38108600-38108800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:38108600-38109800	Weak transcription	K562	blood
31	chr7:38108600-38110600	Weak transcription	HSMMtube	muscle
32	chr7:38108800-38110000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:38109000-38110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:38109800-38110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:38110000-38110800	Enhancers	Brain Germinal Matrix	brain
36	chr7:38110000-38111000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:38110000-38111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:38110200-38110400	Enhancers	K562	blood
39	chr7:38110200-38111000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:38110200-38111000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:38110200-38111000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:38110200-38111000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:38110200-38111200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:38110400-38110800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:38110400-38110800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr7:38110400-38110800	Enhancers	HSMM	muscle
47	chr7:38110400-38111000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:38110600-38110800	Enhancers	HSMMtube	muscle
49	chr7:38110600-38111000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:38137600-38138400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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