Variant report

Variant	esv1847174
Chromosome Location	chr3:194763601-194792415
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:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194760746..194764042-chr3:194765834..194767896,3	MCF-7	breast:
2	chr3:194764183..194766822-chr3:194774722..194776623,2	MCF-7	breast:
3	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
4	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
5	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
6	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
7	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
8	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
9	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
10	chr3:194779827..194782104-chr3:194805919..194808350,2	MCF-7	breast:
11	chr3:194760746..194764042-chr3:194765834..194767896,3	MCF-7	breast:
12	chr3:194624572..194626596-chr3:194788748..194791365,2	K562	blood:
13	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
14	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
15	chr3:194559695..194562228-chr3:194782083..194784919,2	MCF-7	breast:
16	chr3:194792118..194794871-chr3:194805325..194806994,2	K562	blood:
17	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
18	chr3:194760414..194761999-chr3:194772923..194774854,2	K562	blood:
19	chr3:194764183..194766822-chr3:194774722..194776623,2	MCF-7	breast:
20	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
21	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
22	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
23	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
24	chr3:194405223..194406837-chr3:194788272..194790538,2	MCF-7	breast:
25	chr3:194782723..194784789-chr3:194796384..194799142,2	MCF-7	breast:
26	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
27	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
28	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
29	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
30	chr3:194775531..194777802-chr3:194805228..194808125,2	K562	blood:
31	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
32	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
33	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:
34	chr3:194789447..194796347-chr3:194796697..194800807,6	K562	blood:
35	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-4	chr3:194790767-194790840	NONHSAT094139

No data

Variant related genes	Relation type
ENSG00000185112	chromatin interactions
ENSG00000173950	chromatin interactions

Extended variants
information (count: 1616 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2676889	chr3:194763601-194763602	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188147562	chr3:194763628-194763629	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs13087575	chr3:194763662-194763663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115887444	chr3:194763664-194763665	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566941589	chr3:194763676-194763677	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs207464209	chr3:194763742-194763743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2676888	chr3:194763745-194763746	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs552856821	chr3:194763783-194763784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115515079	chr3:194763793-194763794	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115315777	chr3:194763814-194763815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138690810	chr3:194763829-194763830	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76858212	chr3:194763861-194763862	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543159074	chr3:194763862-194763863	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554973197	chr3:194763956-194763957	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573275689	chr3:194763965-194763966	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567202767	chr3:194763977-194763978	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189544449	chr3:194763988-194763989	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532736060	chr3:194763999-194764000	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544510648	chr3:194764049-194764050	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563383949	chr3:194764058-194764059	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112871185	chr3:194764100-194764101	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34914425	chr3:194764101-194764102	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs397729656	chr3:194764110-194764111	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530490556	chr3:194764116-194764117	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548691939	chr3:194764117-194764118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546644453	chr3:194764133-194764134	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566879940	chr3:194764134-194764135	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528114212	chr3:194764174-194764175	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs151332163	chr3:194764184-194764185	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs13097140	chr3:194764188-194764189	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571476708	chr3:194764191-194764192	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374633209	chr3:194764197-194764198	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186676028	chr3:194764217-194764218	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs556843352	chr3:194764251-194764252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs7647267	chr3:194764261-194764262	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs2676887	chr3:194764279-194764280	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555111820	chr3:194764280-194764281	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs2676886	chr3:194764287-194764288	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540677884	chr3:194764394-194764395	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs2720896	chr3:194764403-194764404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577503624	chr3:194764409-194764410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs562414607	chr3:194764420-194764421	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs544907931	chr3:194764429-194764430	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs78390705	chr3:194764497-194764498	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs77869745	chr3:194764506-194764507	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs542303665	chr3:194764507-194764508	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs74924392	chr3:194764519-194764520	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs2676885	chr3:194764531-194764532	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546220764	chr3:194764581-194764582	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs189467706	chr3:194764589-194764590	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194760000-194764600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:194760000-194765000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:194760800-194764200	Enhancers	Hela-S3	cervix
4	chr3:194760800-194764600	Enhancers	Placenta	Placenta
5	chr3:194761200-194764600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:194761200-194765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:194761400-194764200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:194761400-194764400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr3:194761800-194765200	Weak transcription	Spleen	Spleen
10	chr3:194762200-194764000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:194762600-194764200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:194762600-194764400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:194762600-194764400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:194762800-194764000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr3:194762800-194764200	Enhancers	Fetal Thymus	thymus
16	chr3:194762800-194764400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:194762800-194764400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:194762800-194764800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:194763000-194763800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:194763000-194764200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:194763000-194764600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:194763200-194764200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:194763200-194765400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:194763400-194763800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:194763400-194765400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:194763600-194763800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:194763600-194764200	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:194763600-194764200	Flanking Active TSS	NHEK	skin
29	chr3:194763600-194764400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:194763800-194764000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:194763800-194764400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:194763800-194765800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:194764200-194764600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr3:194764200-194765000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr3:194764200-194769000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:194764400-194764800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr3:194764400-194768600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:194764400-194768800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:194764600-194765600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:194764600-194767000	Weak transcription	Placenta	Placenta
41	chr3:194764600-194768600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:194764800-194766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:194765000-194766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:194765000-194766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:194765200-194765600	Enhancers	Spleen	Spleen
46	chr3:194765400-194765600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:194765400-194765600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:194765600-194767000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:194765600-194769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:194765600-194776200	Weak transcription	Spleen	Spleen

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