Variant report

Variant	esv3478069
Chromosome Location	chr7:129157163-129204221
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129072783..129074356-chr7:129177315..129180306,2	K562	blood:
2	chr7:129162766..129165670-chr7:129177654..129179788,2	K562	blood:
3	chr7:129180091..129182101-chr7:129184924..129187343,2	K562	blood:
4	chr7:129165437..129168145-chr7:129197466..129199694,2	K562	blood:
5	chr7:129188028..129191960-chr7:129192887..129197274,4	K562	blood:
6	chr7:129162770..129164723-chr7:129168749..129171209,2	MCF-7	breast:
7	chr7:129151463..129153105-chr7:129158994..129161302,2	K562	blood:
8	chr7:129166259..129168439-chr7:129170451..129172897,2	K562	blood:
9	chr7:129140672..129143228-chr7:129163988..129166273,2	MCF-7	breast:
10	chr7:129184355..129185951-chr7:129190394..129192104,2	MCF-7	breast:
11	chr7:129196388..129198377-chr7:129249725..129251617,2	K562	blood:
12	chr7:129176212..129179052-chr7:129250473..129253342,2	K562	blood:
13	chr7:129199961..129203403-chr7:129205085..129209106,3	K562	blood:
14	chr7:129182760..129185163-chr7:129187076..129189220,2	K562	blood:
15	chr7:129141130..129143556-chr7:129159787..129162154,2	K562	blood:
16	chr7:129162770..129164723-chr7:129168749..129171209,2	MCF-7	breast:
17	chr7:129166809..129169289-chr7:129245985..129248526,2	K562	blood:
18	chr7:129193932..129195991-chr7:129245048..129247026,2	K562	blood:
19	chr7:129164711..129166842-chr7:129167518..129169419,2	K562	blood:
20	chr7:129165126..129167759-chr7:129171397..129173054,2	K562	blood:
21	chr7:129113280..129116133-chr7:129175789..129178739,2	K562	blood:
22	chr7:129062616..129064284-chr7:129199417..129201280,2	MCF-7	breast:
23	chr7:129188028..129191960-chr7:129192887..129197274,4	K562	blood:
24	chr7:129182760..129185163-chr7:129187076..129189220,2	K562	blood:
25	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
26	chr7:129162766..129165670-chr7:129177654..129179788,2	K562	blood:
27	chr7:129164711..129166842-chr7:129167518..129169419,2	K562	blood:
28	chr7:129165126..129167759-chr7:129171397..129173054,2	K562	blood:
29	chr7:129200551..129202256-chr7:129208397..129211365,2	MCF-7	breast:
30	chr7:129152168..129154922-chr7:129163122..129165786,2	MCF-7	breast:
31	chr7:129141250..129143195-chr7:129161388..129164480,3	MCF-7	breast:
32	chr7:129165437..129168145-chr7:129197466..129199694,2	K562	blood:
33	chr7:129166259..129168439-chr7:129170451..129172897,2	K562	blood:
34	chr7:129134009..129135699-chr7:129162425..129164276,2	MCF-7	breast:
35	chr7:129184355..129185951-chr7:129190394..129192104,2	MCF-7	breast:
36	chr7:129180091..129182101-chr7:129184924..129187343,2	K562	blood:
37	chr7:129125678..129128261-chr7:129169143..129171738,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106459	chromatin interactions
ENSG00000240204	chromatin interactions
ENSG00000273329	chromatin interactions
ENSG00000128578	chromatin interactions

Extended variants
information (count: 1916 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1916 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145890435	chr7:129157178-129157179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115589689	chr7:129157180-129157181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114416747	chr7:129157181-129157182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376965822	chr7:129157183-129157184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557372165	chr7:129157260-129157261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575527693	chr7:129157286-129157287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546311919	chr7:129157327-129157328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528322628	chr7:129157358-129157359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77617468	chr7:129157366-129157367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528680520	chr7:129157367-129157368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142914561	chr7:129157385-129157386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201322613	chr7:129157399-129157400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs63660061	chr7:129157400-129157401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12539828	chr7:129157420-129157421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184797323	chr7:129157446-129157447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79224806	chr7:129157471-129157472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs605030	chr7:129157496-129157497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs604699	chr7:129157501-129157502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146614753	chr7:129157502-129157503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566399007	chr7:129157508-129157509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533988719	chr7:129157510-129157511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113880060	chr7:129157541-129157542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555641051	chr7:129157568-129157569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189768626	chr7:129157644-129157645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538170211	chr7:129157688-129157689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556168379	chr7:129157785-129157786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575609695	chr7:129157796-129157797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535050157	chr7:129157808-129157809	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs545847721	chr7:129157824-129157825	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141360801	chr7:129157842-129157843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558233325	chr7:129157863-129157864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181787811	chr7:129157931-129157932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs116434977	chr7:129157937-129157938	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs375326993	chr7:129157964-129157965	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs568680386	chr7:129158005-129158006	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs592034	chr7:129158033-129158034	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557595345	chr7:129158111-129158112	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113967027	chr7:129158154-129158155	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs117477144	chr7:129158187-129158188	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs563014725	chr7:129158207-129158208	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs532946245	chr7:129158315-129158316	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs201726943	chr7:129158349-129158350	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs551051070	chr7:129158350-129158351	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs566466815	chr7:129158357-129158358	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs398006258	chr7:129158364-129158365	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs376218515	chr7:129158366-129158367	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs185895372	chr7:129158374-129158375	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs567502861	chr7:129158375-129158376	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs146880489	chr7:129158392-129158393	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550070460	chr7:129158401-129158402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Endometrioid adenocarcinoma	16974079	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
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	20962326	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129152000-129162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129153800-129157800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:129154600-129159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:129154800-129158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:129154800-129159200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129154800-129159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:129154800-129159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129154800-129162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:129155000-129157600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:129155000-129159600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:129155000-129159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:129155200-129159600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:129156400-129157200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129157200-129162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:129157600-129158000	Enhancers	Adipose Nuclei	Adipose
17	chr7:129157800-129158000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:129157800-129158000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:129157800-129158400	Bivalent Enhancer	HepG2	liver
20	chr7:129158800-129160000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:129159200-129160000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:129159200-129160000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:129159400-129160000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:129159600-129160000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:129159600-129160000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:129159600-129160000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:129159600-129160000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:129159600-129160000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:129159600-129160000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:129159600-129160000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr7:129159800-129160000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:129160000-129161800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:129160000-129161800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:129160000-129162000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:129160000-129162000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:129160000-129163000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:129161800-129162200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:129161800-129162600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr7:129161800-129163000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:129162000-129162600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr7:129162000-129162800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:129162000-129163000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:129162000-129163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:129162200-129172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:129162400-129162600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:129162600-129162800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr7:129162600-129162800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr7:129162600-129162800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:129162600-129162800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:129162600-129162800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links