Variant report

Variant	esv3461301
Chromosome Location	chr3:195772155-195776753
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195775087..195781112-chr3:195806132..195810328,7	K562	blood:
2	chr3:195774699..195776571-chr3:195794634..195796757,3	K562	blood:
3	chr3:195773121..195775698-chr3:195778391..195781329,2	MCF-7	breast:
4	chr3:195774978..195780765-chr3:195803293..195810200,8	K562	blood:
5	chr3:195776607..195778753-chr3:195780835..195783165,2	MCF-7	breast:
6	chr3:195770109..195772936-chr3:195923383..195926412,3	K562	blood:
7	chr3:195774592..195777044-chr3:195910665..195912937,2	K562	blood:
8	chr3:195774337..195780265-chr3:195790698..195793878,6	K562	blood:
9	chr3:195776479..195779102-chr3:195783509..195786726,3	K562	blood:
10	chr3:195771161..195772843-chr3:195786307..195787880,2	K562	blood:
11	chr3:195751254..195754207-chr3:195773192..195776278,3	K562	blood:
12	chr3:195772434..195774325-chr3:195781653..195784506,3	K562	blood:
13	chr3:195774337..195776699-chr3:195790526..195792198,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	chromatin interactions
ENSG00000163958	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201827783	chr3:195772160-195772161	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76518526	chr3:195772161-195772162	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536031796	chr3:195772165-195772166	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186358444	chr3:195772170-195772171	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557745883	chr3:195772194-195772195	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113682727	chr3:195772195-195772196	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78851540	chr3:195772212-195772213	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
8	rs539455834	chr3:195772247-195772248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558145692	chr3:195772273-195772274	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545929799	chr3:195772292-195772293	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543959165	chr3:195772312-195772313	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562146327	chr3:195772318-195772319	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142766849	chr3:195772368-195772369	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564129670	chr3:195772375-195772376	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560189950	chr3:195772379-195772380	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527539933	chr3:195772400-195772401	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551770027	chr3:195772440-195772441	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563711758	chr3:195772483-195772484	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531187815	chr3:195772491-195772492	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549499851	chr3:195772496-195772497	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572878779	chr3:195772501-195772502	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568138805	chr3:195772502-195772503	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs115718192	chr3:195772508-195772509	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148068835	chr3:195772515-195772516	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575126873	chr3:195772591-195772592	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566254933	chr3:195772594-195772595	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191009764	chr3:195772621-195772622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540092850	chr3:195772643-195772644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558465740	chr3:195772646-195772647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs13098628	chr3:195772656-195772657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537431190	chr3:195772660-195772661	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555940933	chr3:195772661-195772662	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181835909	chr3:195772689-195772690	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541667290	chr3:195772752-195772753	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56111861	chr3:195772825-195772826	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572270925	chr3:195772850-195772851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553914203	chr3:195772884-195772885	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545721419	chr3:195772919-195772920	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564446425	chr3:195772949-195772950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115599646	chr3:195772962-195772963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531247222	chr3:195772987-195772988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186123142	chr3:195773000-195773001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12639352	chr3:195773031-195773032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528255973	chr3:195773048-195773049	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9637533	chr3:195773061-195773062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562130015	chr3:195773085-195773086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62284010	chr3:195773092-195773093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547690878	chr3:195773107-195773108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139718738	chr3:195773182-195773183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150185669	chr3:195773212-195773213	Weak transcription Strong transcription 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:265 , 50 per page) page: 1 2 3 4 5 6

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	chr3:195768400-195773000	Weak transcription	Dnd41	blood
6	chr3:195768400-195775200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:195768400-195781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:195768600-195775400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:195768600-195778800	Weak transcription	Fetal Stomach	stomach
10	chr3:195769000-195773600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:195769000-195774600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:195769200-195776000	Weak transcription	K562	blood
13	chr3:195769400-195774400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:195769400-195775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:195769600-195773000	Weak transcription	Primary T cells from cord blood	blood
16	chr3:195769600-195774400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:195769600-195775400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:195769600-195775400	Weak transcription	Small Intestine	intestine
19	chr3:195769800-195775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:195769800-195775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:195769800-195775400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:195769800-195775800	Weak transcription	Aorta	Aorta
23	chr3:195769800-195776400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:195770000-195774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:195770000-195774200	Weak transcription	A549	lung
26	chr3:195770000-195774800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:195770000-195775800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:195770000-195778800	Weak transcription	Gastric	stomach
29	chr3:195770200-195773200	Weak transcription	Left Ventricle	heart
30	chr3:195770200-195774600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:195770200-195775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:195770200-195775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:195770200-195775400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:195770200-195778000	Weak transcription	Ovary	ovary
35	chr3:195770200-195778800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:195770400-195772200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:195770400-195773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:195770400-195776800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:195770400-195778200	Weak transcription	Fetal Kidney	kidney
40	chr3:195770600-195775800	Weak transcription	GM12878-XiMat	blood
41	chr3:195770800-195774400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:195770800-195774600	Weak transcription	HMEC	breast
43	chr3:195770800-195776000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:195771000-195774400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:195771000-195774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:195771000-195775600	Weak transcription	NH-A	brain
47	chr3:195771000-195776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:195771200-195775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:195771400-195772400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:195771400-195772600	Strong transcription	Pancreas	Pancrea

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