Variant report

Variant	nsv1029571
Chromosome Location	chr7:103855890-103909757
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103855618..103859131-chr7:103859954..103863291,3	MCF-7	breast:
2	chr7:103864521..103866383-chr7:103867413..103869166,2	MCF-7	breast:
3	chr7:103865736..103867349-chr7:104538878..104541224,2	MCF-7	breast:
4	chr7:103871547..103872530-chr7:104558465..104559716,7	K562	blood:
5	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:
6	chr7:103901281..103902930-chr7:103909160..103911319,2	K562	blood:
7	chr7:103882149..103884182-chr7:103888404..103891368,2	K562	blood:
8	chr7:103882149..103884182-chr7:103888404..103891368,2	K562	blood:
9	chr7:103891426..103893091-chr7:103895738..103897765,2	K562	blood:
10	chr7:103846910..103851184-chr7:103856864..103861366,6	MCF-7	breast:
11	chr7:103906374..103908204-chr7:103909553..103912446,2	K562	blood:
12	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:
13	chr7:103858966..103860906-chr7:103867973..103872038,3	K562	blood:
14	chr7:103864521..103866383-chr7:103867413..103869166,2	MCF-7	breast:
15	chr7:103847113..103849971-chr7:103857214..103859263,3	MCF-7	breast:
16	chr7:103846992..103849875-chr7:103861564..103863128,2	K562	blood:
17	chr7:103871788..103872679-chr7:103892569..103893462,4	MCF-7	breast:
18	chr7:103879381..103883166-chr7:103888951..103893508,5	MCF-7	breast:
19	chr7:103847204..103848978-chr7:103906367..103908511,2	MCF-7	breast:
20	chr7:103871788..103872679-chr7:103892569..103893462,4	MCF-7	breast:
21	chr7:103858966..103860906-chr7:103867973..103872038,3	K562	blood:
22	chr7:103890321..103892926-chr7:103895199..103897765,2	K562	blood:
23	chr7:103846683..103848713-chr7:103864388..103866402,2	K562	blood:
24	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:
25	chr7:103871818..103872475-chr7:103907890..103908480,2	MCF-7	breast:
26	chr7:103847842..103850053-chr7:103878233..103880195,2	MCF-7	breast:
27	chr7:103846903..103848907-chr7:103862421..103864771,2	MCF-7	breast:
28	chr7:103891426..103893091-chr7:103895738..103897765,2	K562	blood:
29	chr7:103907103..103909404-chr7:103910665..103913371,2	MCF-7	breast:
30	chr7:103855618..103859131-chr7:103859954..103863291,3	MCF-7	breast:
31	chr7:103890321..103892926-chr7:103895199..103897765,2	K562	blood:
32	chr7:103871818..103872475-chr7:103907890..103908480,2	MCF-7	breast:
33	chr7:103901281..103902930-chr7:103909160..103911319,2	K562	blood:
34	chr7:103848155..103849804-chr7:103868628..103871068,2	MCF-7	breast:
35	chr7:103846923..103849398-chr7:103892463..103895900,3	MCF-7	breast:
36	chr7:103879381..103883166-chr7:103888951..103893508,5	MCF-7	breast:
37	chr7:103846124..103848372-chr7:103861589..103863576,2	MCF-7	breast:
38	chr7:103906374..103908204-chr7:103909553..103912446,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164815	chromatin interactions

Extended variants
information (count: 1272 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118178479	chr7:103856870-103856871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576206968	chr7:103856879-103856880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372115572	chr7:103856903-103856904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6948440	chr7:103856939-103856940	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139059549	chr7:103856953-103856954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80239920	chr7:103856955-103856956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545404288	chr7:103856958-103856959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6968451	chr7:103856995-103856996	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527839432	chr7:103856996-103856997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542817270	chr7:103857002-103857003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561019846	chr7:103857065-103857066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114994241	chr7:103857081-103857082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56048667	chr7:103857082-103857083	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192321645	chr7:103857101-103857102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532436064	chr7:103857103-103857104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547413120	chr7:103857134-103857135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184789207	chr7:103857144-103857145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536402401	chr7:103857155-103857156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73415801	chr7:103857177-103857178	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569731427	chr7:103857180-103857181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536779805	chr7:103857205-103857206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6948673	chr7:103857226-103857227	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576811001	chr7:103857249-103857250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371582782	chr7:103857255-103857256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73417705	chr7:103857291-103857292	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4140860	chr7:103857302-103857303	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542884837	chr7:103857322-103857323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187263275	chr7:103857376-103857377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114909508	chr7:103857380-103857381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6962673	chr7:103857394-103857395	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560483402	chr7:103857419-103857420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561182239	chr7:103857494-103857495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535059646	chr7:103857497-103857498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192038051	chr7:103857526-103857527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543602632	chr7:103857529-103857530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573085176	chr7:103857545-103857546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143026676	chr7:103857568-103857569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553399774	chr7:103857574-103857575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6962612	chr7:103857575-103857576	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34768044	chr7:103857586-103857587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs66925060	chr7:103857590-103857591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566004753	chr7:103857596-103857597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142652800	chr7:103857597-103857598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530030936	chr7:103857605-103857606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548389080	chr7:103857659-103857660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569893221	chr7:103857673-103857674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117886448	chr7:103857680-103857681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201306634	chr7:103857714-103857715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185285629	chr7:103857720-103857721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527870134	chr7:103857745-103857746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103864200-103865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:103864200-103865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:103864400-103864800	Enhancers	Hela-S3	cervix
4	chr7:103864400-103865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:103864400-103865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:103864400-103865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:103864400-103865600	Enhancers	Stomach Mucosa	stomach
8	chr7:103864400-103865600	Enhancers	A549	lung
9	chr7:103864600-103865000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:103864600-103865000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:103864600-103865000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:103864600-103865000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:103864600-103865000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:103864600-103865000	Enhancers	HMEC	breast
15	chr7:103864600-103865000	Enhancers	NH-A	brain
16	chr7:103864600-103865000	Enhancers	NHDF-Ad	bronchial
17	chr7:103864600-103865000	Enhancers	NHLF	lung
18	chr7:103864600-103865200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:103864600-103865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:103864600-103865200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:103864600-103865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:103864600-103865200	Enhancers	HUVEC	blood vessel
23	chr7:103864600-103865200	Enhancers	K562	blood
24	chr7:103864600-103865200	Enhancers	Osteobl	bone
25	chr7:103864600-103865400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:103864600-103865400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:103864600-103865400	Enhancers	NHEK	skin
28	chr7:103864800-103865000	Flanking Active TSS	Hela-S3	cervix
29	chr7:103864800-103865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:103864800-103865200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:103864800-103865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:103864800-103865400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:103865000-103870200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:103865200-103869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:103865200-103871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:103865600-103866000	Weak transcription	Stomach Mucosa	stomach
38	chr7:103866000-103866200	Enhancers	Stomach Mucosa	stomach
39	chr7:103866200-103869000	Weak transcription	Stomach Mucosa	stomach
40	chr7:103869000-103870000	Enhancers	Stomach Mucosa	stomach
41	chr7:103869600-103870000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:103870000-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:103870000-103871800	Weak transcription	Stomach Mucosa	stomach
44	chr7:103870200-103870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:103870200-103871200	Enhancers	Brain Germinal Matrix	brain
46	chr7:103870600-103871200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:103870800-103871400	Enhancers	Fetal Brain Female	brain
48	chr7:103870800-103872400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:103871000-103871200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:103871000-103871200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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