Variant report

Variant	nsv511984
Chromosome Location	chr7:101332885-101335376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101329586..101337237-chr7:101456658..101461622,22	MCF-7	breast:
2	chr7:101330039..101336974-chr7:101455968..101461022,11	MCF-7	breast:
3	chr7:101331022..101333643-chr7:101341514..101343495,2	MCF-7	breast:
4	chr7:101332096..101334015-chr7:101646286..101648242,2	MCF-7	breast:
5	chr7:101332498..101335096-chr7:101338388..101341217,2	MCF-7	breast:
6	chr7:101331169..101333172-chr7:101342500..101345849,4	MCF-7	breast:
7	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114884155	chr7:101332914-101332915	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111907641	chr7:101332923-101332924	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs757820	chr7:101332926-101332927	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576097283	chr7:101332930-101332931	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs757821	chr7:101332999-101333000	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34942223	chr7:101333080-101333081	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397817599	chr7:101333084-101333085	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202141461	chr7:101333085-101333086	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76694902	chr7:101333096-101333097	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371377066	chr7:101333134-101333135	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549257175	chr7:101333137-101333138	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190287049	chr7:101333144-101333145	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs757822	chr7:101333148-101333149	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571226779	chr7:101333155-101333156	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538829120	chr7:101333159-101333160	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376517093	chr7:101333207-101333208	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553644414	chr7:101333208-101333209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559240459	chr7:101333237-101333238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572194702	chr7:101333274-101333275	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536197068	chr7:101333312-101333313	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533258011	chr7:101333324-101333325	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34348289	chr7:101333372-101333373	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs151268516	chr7:101333398-101333399	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375494254	chr7:101333421-101333422	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143884564	chr7:101333424-101333425	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551384524	chr7:101333439-101333440	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116593046	chr7:101333476-101333477	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35479095	chr7:101333500-101333501	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544585552	chr7:101333543-101333544	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562996004	chr7:101333548-101333549	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs578000849	chr7:101333558-101333559	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114342086	chr7:101333573-101333574	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369726453	chr7:101333588-101333589	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527885203	chr7:101333796-101333797	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549295668	chr7:101333810-101333811	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6965966	chr7:101333836-101333837	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117648986	chr7:101333838-101333839	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561313534	chr7:101333909-101333910	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112656842	chr7:101333912-101333913	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549894494	chr7:101333946-101333947	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568237537	chr7:101333983-101333984	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1636447	chr7:101333993-101333994	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111796896	chr7:101334009-101334010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs58380762	chr7:101334015-101334016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs398111650	chr7:101334016-101334017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200704956	chr7:101334023-101334024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373180067	chr7:101334027-101334028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538394540	chr7:101334050-101334051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547464829	chr7:101334054-101334055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10270029	chr7:101334087-101334088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Prostate cancer	16461572	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
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101330600-101333000	Enhancers	Spleen	Spleen
2	chr7:101331400-101334000	Enhancers	Fetal Intestine Small	intestine
3	chr7:101332000-101333200	Weak transcription	Fetal Heart	heart
4	chr7:101332000-101333800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:101332000-101334000	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:101332000-101334000	Enhancers	Fetal Intestine Large	intestine
7	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
8	chr7:101332200-101333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:101332200-101333600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:101332200-101333600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:101332200-101333600	Weak transcription	Right Ventricle	heart
12	chr7:101332200-101335000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:101332200-101335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:101332200-101335200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:101332200-101335200	Weak transcription	Pancreas	Pancrea
16	chr7:101332200-101335200	Weak transcription	Thymus	Thymus
17	chr7:101332200-101335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:101332200-101335400	Weak transcription	Fetal Thymus	thymus
19	chr7:101332400-101333800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:101332400-101334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:101332400-101334600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:101332400-101335000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:101332400-101335200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:101332400-101335200	Weak transcription	A549	lung
25	chr7:101332400-101335200	Weak transcription	GM12878-XiMat	blood
26	chr7:101332600-101333000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:101332600-101334000	Bivalent Enhancer	HepG2	liver
28	chr7:101332600-101335200	Weak transcription	Liver	Liver
29	chr7:101332600-101335600	Weak transcription	Hela-S3	cervix
30	chr7:101332600-101337000	Weak transcription	Placenta	Placenta
31	chr7:101332800-101333200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:101332800-101333400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:101333000-101333800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:101333000-101333800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:101333000-101335400	Weak transcription	Spleen	Spleen
36	chr7:101333200-101333800	Bivalent Enhancer	Fetal Stomach	stomach
37	chr7:101333200-101334000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:101333200-101334000	Enhancers	Fetal Heart	heart
39	chr7:101333200-101334000	Enhancers	Fetal Muscle Leg	muscle
40	chr7:101333400-101333800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:101333400-101333800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:101333400-101333800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:101333400-101333800	Bivalent Enhancer	Fetal Brain Male	brain
44	chr7:101333400-101334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:101333400-101334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:101333600-101333800	Enhancers	Colonic Mucosa	Colon
47	chr7:101333600-101333800	Enhancers	Fetal Kidney	kidney
48	chr7:101333600-101333800	Enhancers	Right Ventricle	heart
49	chr7:101333600-101334000	Enhancers	Gastric	stomach
50	chr7:101333600-101334000	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links