Variant report

Variant	esv3324687
Chromosome Location	chr4:8167102-8169600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8157586..8162505-chr4:8168243..8171726,5	MCF-7	breast:
2	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:
3	chr4:8159576..8163492-chr4:8163504..8167545,5	MCF-7	breast:
4	chr4:8167178..8170899-chr4:8199660..8202553,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	chromatin interactions
ENSG00000125089	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576294227	chr4:8167102-8167103	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538840658	chr4:8167207-8167208	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547996840	chr4:8167257-8167258	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566240349	chr4:8167283-8167284	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372425269	chr4:8167329-8167330	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536269551	chr4:8167385-8167386	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143160361	chr4:8167414-8167415	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191002785	chr4:8167419-8167420	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77560724	chr4:8167457-8167458	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572893742	chr4:8167534-8167535	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558612417	chr4:8167560-8167561	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576953838	chr4:8167571-8167572	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544875598	chr4:8167637-8167638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560338464	chr4:8167776-8167777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184043294	chr4:8167784-8167785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148276892	chr4:8167794-8167795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560836451	chr4:8167795-8167796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79382532	chr4:8167814-8167815	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140281686	chr4:8167839-8167840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76806113	chr4:8167911-8167912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201638577	chr4:8167928-8167929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200955894	chr4:8167929-8167930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202105413	chr4:8167949-8167950	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79799806	chr4:8167989-8167990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373060737	chr4:8168004-8168005	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78432361	chr4:8168016-8168017	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536517742	chr4:8168022-8168023	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373137586	chr4:8168050-8168051	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548487593	chr4:8168065-8168066	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186883756	chr4:8168079-8168080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537028100	chr4:8168085-8168086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558576608	chr4:8168112-8168113	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191669769	chr4:8168124-8168125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535131069	chr4:8168131-8168132	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553636290	chr4:8168168-8168169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572225340	chr4:8168177-8168178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542906781	chr4:8168183-8168184	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561148720	chr4:8168247-8168248	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576432283	chr4:8168257-8168258	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13124915	chr4:8168261-8168262	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs13108213	chr4:8168266-8168267	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28866015	chr4:8168280-8168281	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111605017	chr4:8168293-8168294	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532069867	chr4:8168325-8168326	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547491524	chr4:8168339-8168340	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559657712	chr4:8168364-8168365	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553475304	chr4:8168368-8168369	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs79619273	chr4:8168407-8168408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373876932	chr4:8168408-8168409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548403270	chr4:8168428-8168429	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8162200-8167200	Weak transcription	Right Ventricle	heart
2	chr4:8162400-8168200	Weak transcription	Gastric	stomach
3	chr4:8162400-8168200	Weak transcription	Spleen	Spleen
4	chr4:8164000-8167200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:8164800-8167200	Enhancers	Fetal Thymus	thymus
6	chr4:8165200-8167600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:8165400-8167600	Enhancers	Fetal Heart	heart
8	chr4:8165800-8167200	Enhancers	Psoas Muscle	Psoas
9	chr4:8166000-8167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:8166400-8167400	Enhancers	NHEK	skin
11	chr4:8166400-8169800	Weak transcription	Liver	Liver
12	chr4:8166800-8168000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:8166800-8168200	Weak transcription	Pancreas	Pancrea
14	chr4:8166800-8168800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:8167000-8167400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:8167000-8167400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr4:8167000-8167400	Enhancers	HSMM	muscle
18	chr4:8167000-8167600	Enhancers	Left Ventricle	heart
19	chr4:8167000-8167600	Enhancers	Right Atrium	heart
20	chr4:8167000-8168000	Enhancers	HSMMtube	muscle
21	chr4:8167000-8170600	Enhancers	Esophagus	oesophagus
22	chr4:8167200-8167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:8167200-8167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:8167200-8167400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:8167200-8167400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:8167200-8167600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:8167200-8167600	Weak transcription	Psoas Muscle	Psoas
28	chr4:8167200-8167600	Enhancers	Right Ventricle	heart
29	chr4:8167400-8167800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr4:8167400-8168000	Enhancers	Fetal Muscle Trunk	muscle
31	chr4:8167400-8169600	Weak transcription	HSMM	muscle
32	chr4:8167600-8168000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:8167600-8169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:8167600-8170200	Weak transcription	Right Atrium	heart
35	chr4:8167600-8170600	Enhancers	Psoas Muscle	Psoas
36	chr4:8167800-8168000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:8168000-8168200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr4:8168000-8169000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:8168000-8172200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:8168200-8168400	ZNF genes & repeats	Gastric	stomach
41	chr4:8168200-8168400	Enhancers	Pancreas	Pancrea
42	chr4:8168200-8169200	Enhancers	Adipose Nuclei	Adipose
43	chr4:8168200-8169600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:8168200-8169800	Enhancers	Spleen	Spleen
45	chr4:8168400-8168800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr4:8168400-8172200	Weak transcription	Gastric	stomach
47	chr4:8168600-8170000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:8168600-8170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:8168800-8169200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr4:8168800-8169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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