Variant report

Variant	esv3321941
Chromosome Location	chr3:194784663-194789461
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194624572..194626596-chr3:194788748..194791365,2	K562	blood:
2	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
3	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
4	chr3:194782723..194784789-chr3:194796384..194799142,2	MCF-7	breast:
5	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
6	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
7	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
8	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
9	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
10	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
11	chr3:194405223..194406837-chr3:194788272..194790538,2	MCF-7	breast:
12	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
13	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
14	chr3:194559695..194562228-chr3:194782083..194784919,2	MCF-7	breast:
15	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
16	chr3:194789447..194796347-chr3:194796697..194800807,6	K562	blood:
17	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185112	chromatin interactions

Extended variants
information (count: 335 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558957173	chr3:194784695-194784696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs6794986	chr3:194784699-194784700	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6797948	chr3:194784705-194784706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34974345	chr3:194784766-194784767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113132890	chr3:194784810-194784811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146427865	chr3:194784836-194784837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559887034	chr3:194784884-194784885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10656258	chr3:194784894-194784895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527320356	chr3:194784896-194784897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs72594387	chr3:194784897-194784898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111790625	chr3:194784900-194784901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200975182	chr3:194784930-194784931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138175939	chr3:194784931-194784932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368870392	chr3:194784934-194784935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551893327	chr3:194784941-194784942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570677432	chr3:194784952-194784953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140770114	chr3:194784985-194784986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571802688	chr3:194784992-194784993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7639703	chr3:194785044-194785045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371984483	chr3:194785078-194785079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549530133	chr3:194785093-194785094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542494825	chr3:194785118-194785119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188532779	chr3:194785127-194785128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535533401	chr3:194785132-194785133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113593807	chr3:194785155-194785156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139468155	chr3:194785156-194785157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561154325	chr3:194785188-194785189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566050834	chr3:194785193-194785194	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111436845	chr3:194785208-194785209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112941093	chr3:194785220-194785221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531379242	chr3:194785227-194785228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557889489	chr3:194785264-194785265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576643252	chr3:194785269-194785270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544163845	chr3:194785304-194785305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs73890642	chr3:194785320-194785321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374112835	chr3:194785352-194785353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112762357	chr3:194785361-194785362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541933941	chr3:194785377-194785378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145489891	chr3:194785425-194785426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7627043	chr3:194785443-194785444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs545753224	chr3:194785444-194785445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547809696	chr3:194785466-194785467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563940115	chr3:194785498-194785499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568784084	chr3:194785559-194785560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7645177	chr3:194785565-194785566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs73068294	chr3:194785609-194785610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77567256	chr3:194785611-194785612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs529014715	chr3:194785612-194785613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs547278222	chr3:194785649-194785650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566138058	chr3:194785670-194785671	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194774200-194787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:194776200-194787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
6	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:194780600-194788600	Weak transcription	HUVEC	blood vessel
8	chr3:194780600-194788800	Weak transcription	Lung	lung
9	chr3:194781000-194788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:194781000-194789400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
12	chr3:194781600-194786200	Enhancers	Fetal Stomach	stomach
13	chr3:194782000-194785600	Enhancers	Spleen	Spleen
14	chr3:194782000-194788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:194782000-194790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:194782600-194786200	Enhancers	Fetal Muscle Trunk	muscle
17	chr3:194783400-194785400	Enhancers	Fetal Heart	heart
18	chr3:194783400-194789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:194783600-194785800	Enhancers	Fetal Intestine Large	intestine
20	chr3:194783600-194786000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:194783600-194786000	Enhancers	HepG2	liver
22	chr3:194783600-194786200	Enhancers	Fetal Muscle Leg	muscle
23	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:194783800-194785800	Enhancers	Fetal Intestine Small	intestine
25	chr3:194783800-194786000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:194783800-194786600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:194783800-194788200	Weak transcription	Gastric	stomach
28	chr3:194784000-194785400	Enhancers	Esophagus	oesophagus
29	chr3:194784000-194785400	Enhancers	Left Ventricle	heart
30	chr3:194784000-194785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:194784000-194785600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:194784000-194786000	Enhancers	Stomach Mucosa	stomach
33	chr3:194784000-194786600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:194784200-194785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:194784200-194785600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:194784200-194785600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:194784200-194785800	Enhancers	Placenta	Placenta
39	chr3:194784200-194786000	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:194784200-194786200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:194784200-194786400	Enhancers	Fetal Thymus	thymus
42	chr3:194784200-194789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:194784200-194790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:194784400-194785200	Enhancers	Primary hematopoietic stem cells	blood
46	chr3:194784400-194785400	Enhancers	Psoas Muscle	Psoas
47	chr3:194784400-194785600	Enhancers	Fetal Lung	lung
48	chr3:194784400-194785800	Enhancers	Duodenum Mucosa	Duodenum
49	chr3:194784400-194786000	Enhancers	Thymus	Thymus
50	chr3:194784400-194786000	Enhancers	GM12878-XiMat	blood

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