Variant report

Variant	esv2753636
Chromosome Location	chr1:185706947-185734487
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185720765..185721346-chr9:95432019..95432945,2	MCF-7	breast:
2	chr1:185727284..185728817-chr1:185729050..185730905,2	MCF-7	breast:
3	chr1:185702749..185704778-chr1:185712860..185715122,2	K562	blood:
4	chr1:185701681..185703723-chr1:185720093..185722105,2	MCF-7	breast:
5	chr1:185723336..185726136-chr1:185742390..185744903,2	K562	blood:
6	chr1:185703630..185705761-chr1:185707889..185709401,2	K562	blood:
7	chr1:185703227..185705964-chr1:185713601..185716556,3	MCF-7	breast:
8	chr1:185708096..185710876-chr1:185716929..185719553,2	MCF-7	breast:
9	chr1:185708096..185710876-chr1:185716929..185719553,2	MCF-7	breast:
10	chr1:185702827..185706201-chr1:185708829..185713109,4	MCF-7	breast:
11	chr1:185703402..185705426-chr1:185717011..185719695,2	MCF-7	breast:
12	chr1:185727284..185728817-chr1:185729050..185730905,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMCN1-3	chr1:185712775-185712977	NONHSAT008438

No data

Variant related genes	Relation type
ENSG00000127080	chromatin interactions
ENSG00000143341	chromatin interactions

Extended variants
information (count: 923 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41357745	chr1:185706947-185706948	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12730765	chr1:185707083-185707084	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567516786	chr1:185707103-185707104	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552294623	chr1:185707183-185707184	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35425624	chr1:185707213-185707214	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571225111	chr1:185707237-185707238	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34146219	chr1:185707245-185707246	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148512981	chr1:185707247-185707248	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187268976	chr1:185707331-185707332	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142844357	chr1:185707341-185707342	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115610772	chr1:185707399-185707400	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545714922	chr1:185707413-185707414	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573005946	chr1:185707441-185707442	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540022559	chr1:185707449-185707450	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535072301	chr1:185707496-185707497	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146089588	chr1:185707497-185707498	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114066805	chr1:185707533-185707534	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545036558	chr1:185707536-185707537	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77172404	chr1:185707558-185707559	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4596837	chr1:185707564-185707565	Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs201443963	chr1:185707575-185707576	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75684598	chr1:185707579-185707580	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528705658	chr1:185707593-185707594	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546855532	chr1:185707597-185707598	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571353019	chr1:185707641-185707642	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538343772	chr1:185707669-185707670	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs6701269	chr1:185707759-185707760	Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541905290	chr1:185707775-185707776	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7414529	chr1:185707784-185707785	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7416701	chr1:185707785-185707786	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190467780	chr1:185707809-185707810	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554922219	chr1:185707813-185707814	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181729577	chr1:185707828-185707829	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540451029	chr1:185707851-185707852	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186267855	chr1:185707894-185707895	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535792271	chr1:185707920-185707921	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557663094	chr1:185707995-185707996	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370506671	chr1:185708002-185708003	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115121542	chr1:185708035-185708036	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144086707	chr1:185708076-185708077	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146497445	chr1:185708098-185708099	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544171031	chr1:185708139-185708140	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs80172957	chr1:185708145-185708146	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190587125	chr1:185708151-185708152	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59926577	chr1:185708153-185708154	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575942810	chr1:185708174-185708175	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371337303	chr1:185708190-185708191	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140865115	chr1:185708204-185708205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1321668	chr1:185708222-185708223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546926785	chr1:185708237-185708238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185704000-185714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:185705200-185707200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:185705200-185717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185705400-185707000	Weak transcription	Aorta	Aorta
5	chr1:185705400-185710800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185705800-185710200	Weak transcription	NHDF-Ad	bronchial
7	chr1:185706200-185707200	Enhancers	Psoas Muscle	Psoas
8	chr1:185706600-185707400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:185707000-185707200	Enhancers	Adipose Nuclei	Adipose
10	chr1:185707000-185707400	Enhancers	Aorta	Aorta
11	chr1:185707400-185707800	Active TSS	Aorta	Aorta
12	chr1:185707400-185708200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:185707800-185708800	Enhancers	Aorta	Aorta
14	chr1:185708200-185709000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:185709000-185712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:185710200-185710600	ZNF genes & repeats	NHDF-Ad	bronchial
17	chr1:185710600-185710800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
18	chr1:185710600-185711000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:185711000-185711200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:185711200-185711400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:185712800-185717000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:185714200-185714800	Active TSS	Aorta	Aorta
23	chr1:185714800-185715000	Flanking Active TSS	Aorta	Aorta
24	chr1:185715000-185721000	Weak transcription	Aorta	Aorta
25	chr1:185717000-185717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:185717000-185718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:185717200-185717600	Enhancers	HMEC	breast
28	chr1:185717400-185717600	Enhancers	Psoas Muscle	Psoas
29	chr1:185717600-185726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:185718200-185732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:185718800-185719000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:185718800-185730800	Weak transcription	Psoas Muscle	Psoas
33	chr1:185719000-185720000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:185720000-185720200	Enhancers	Stomach Mucosa	stomach
35	chr1:185720000-185720600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:185720000-185720800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:185720000-185720800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:185720000-185721200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:185720000-185721400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:185720200-185721400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:185720200-185726800	Weak transcription	Stomach Mucosa	stomach
42	chr1:185720400-185721600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:185721000-185721600	Flanking Active TSS	Aorta	Aorta
44	chr1:185721000-185722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:185721600-185721800	Active TSS	Aorta	Aorta
46	chr1:185721600-185721800	Enhancers	Fetal Lung	lung
47	chr1:185721800-185736400	Weak transcription	Fetal Lung	lung
48	chr1:185730200-185745000	Weak transcription	Fetal Kidney	kidney
49	chr1:185731400-185732200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:185732000-185733200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links