Variant report

Variant	esv1005544
Chromosome Location	chr3:195774193-195774714
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195773121..195775698-chr3:195778391..195781329,2	MCF-7	breast:
2	chr3:195774699..195776571-chr3:195794634..195796757,3	K562	blood:
3	chr3:195774337..195780265-chr3:195790698..195793878,6	K562	blood:
4	chr3:195774337..195776699-chr3:195790526..195792198,2	K562	blood:
5	chr3:195774592..195777044-chr3:195910665..195912937,2	K562	blood:
6	chr3:195772434..195774325-chr3:195781653..195784506,3	K562	blood:
7	chr3:195751254..195754207-chr3:195773192..195776278,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376299043	chr3:195774250-195774251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542851059	chr3:195774277-195774278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183131506	chr3:195774287-195774288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114657266	chr3:195774292-195774293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546991122	chr3:195774328-195774329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564909124	chr3:195774358-195774359	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187465680	chr3:195774369-195774370	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139535195	chr3:195774433-195774434	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569004822	chr3:195774448-195774449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149687104	chr3:195774507-195774508	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554403726	chr3:195774520-195774521	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6772320	chr3:195774541-195774542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192644824	chr3:195774585-195774586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534586094	chr3:195774586-195774587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183354654	chr3:195774591-195774592	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533127122	chr3:195774592-195774593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369154931	chr3:195774620-195774621	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79057830	chr3:195774622-195774623	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141532085	chr3:195774629-195774630	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4927708	chr3:195774645-195774646	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195762800-195780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:195763000-195774600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:195765000-195775200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:195767200-195775400	Weak transcription	Fetal Brain Female	brain
5	chr3:195768400-195775200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:195768400-195781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:195768600-195775400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:195768600-195778800	Weak transcription	Fetal Stomach	stomach
9	chr3:195769000-195774600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:195769200-195776000	Weak transcription	K562	blood
11	chr3:195769400-195774400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:195769400-195775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:195769600-195774400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:195769600-195775400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:195769600-195775400	Weak transcription	Small Intestine	intestine
16	chr3:195769800-195775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:195769800-195775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:195769800-195775400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:195769800-195775800	Weak transcription	Aorta	Aorta
20	chr3:195769800-195776400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:195770000-195774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:195770000-195774200	Weak transcription	A549	lung
23	chr3:195770000-195774800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:195770000-195775800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:195770000-195778800	Weak transcription	Gastric	stomach
26	chr3:195770200-195774600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:195770200-195775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:195770200-195775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:195770200-195775400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:195770200-195778000	Weak transcription	Ovary	ovary
31	chr3:195770200-195778800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:195770400-195776800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:195770400-195778200	Weak transcription	Fetal Kidney	kidney
34	chr3:195770600-195775800	Weak transcription	GM12878-XiMat	blood
35	chr3:195770800-195774400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:195770800-195774600	Weak transcription	HMEC	breast
37	chr3:195770800-195776000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:195771000-195774400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:195771000-195774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:195771000-195775600	Weak transcription	NH-A	brain
41	chr3:195771000-195776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:195771200-195775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:195771400-195804000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:195771600-195776400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:195771800-195774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:195771800-195775400	Weak transcription	Esophagus	oesophagus
47	chr3:195771800-195775800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:195771800-195776400	Weak transcription	Colonic Mucosa	Colon
49	chr3:195771800-195778800	Weak transcription	Lung	lung
50	chr3:195772000-195774200	Weak transcription	Placenta	Placenta

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