Variant report

Variant	esv3463701
Chromosome Location	chr3:195926477-195928489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:195926360-195926510	K562	blood:	n/a	n/a
2	CTCF	chr3:195926380-195926530	GM12866	blood:	n/a	n/a
3	CTCF	chr3:195926342-195926549	HepG2	liver:	n/a	n/a
4	CTCF	chr3:195926362-195926522	GM13977	blood:	n/a	n/a
5	CTCF	chr3:195926360-195926510	GM12867	blood:	n/a	n/a
6	CTCF	chr3:195926360-195926510	GM12866	blood:	n/a	n/a
7	CTCF	chr3:195926340-195926490	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:195926306-195926538	GM12892	blood:	n/a	n/a
9	CTCF	chr3:195926380-195926530	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr3:195926340-195926490	HVMF	connective:	n/a	n/a
11	CTCF	chr3:195926360-195926510	HAc	cerebellar:	n/a	n/a
12	CTCF	chr3:195926340-195926490	GM12864	blood:	n/a	n/a
13	CTCF	chr3:195926331-195926539	Gliobla	brain:	n/a	n/a
14	CTCF	chr3:195926349-195926513	Fibrobl	skin:	n/a	n/a
15	CTCF	chr3:195926380-195926530	GM12873	blood:	n/a	n/a
16	CTCF	chr3:195926340-195926490	HCFaa	heart:	n/a	n/a
17	CTCF	chr3:195926207-195926530	T-47D	breast:	n/a	n/a
18	CTCF	chr3:195926380-195926530	GM12872	blood:	n/a	n/a
19	CTCF	chr3:195926360-195926510	GM12874	blood:	n/a	n/a
20	CTCF	chr3:195926372-195926502	A549	lung:	n/a	n/a
21	CTCF	chr3:195926342-195926536	GM10266	blood:	n/a	n/a
22	CTCF	chr3:195926360-195926510	AG04450	lung:	n/a	n/a
23	CTCF	chr3:195926420-195926570	NHLF	lung:	n/a	n/a
24	CTCF	chr3:195926357-195926534	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr3:195926324-195926542	GM19238	blood:	n/a	n/a
26	CTCF	chr3:195926400-195926550	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr3:195926400-195926550	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr3:195926340-195926490	HCM	heart:	n/a	n/a
29	CTCF	chr3:195926360-195926510	GM12872	blood:	n/a	n/a
30	CTCF	chr3:195926328-195926522	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:195926363-195926530	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr3:195926228-195926598	HCT-116	colon:	n/a	n/a
33	CTCF	chr3:195926360-195926510	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr3:195926360-195926510	HMF	breast:	n/a	n/a
35	CTCF	chr3:195926340-195926490	RPTEC	kidney:	n/a	n/a
36	CTCF	chr3:195926280-195926585	K562	blood:	n/a	n/a
37	CTCF	chr3:195926380-195926530	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr3:195926360-195926510	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr3:195926360-195926510	HMEC	breast:	n/a	n/a
40	CTCF	chr3:195926333-195926514	ProgFib	skin:	n/a	n/a
41	CTCF	chr3:195926315-195926559	GM12878	blood:	n/a	n/a
42	CTCF	chr3:195926380-195926530	BE2_C	brain:	n/a	n/a
43	CTCF	chr3:195926400-195926550	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr3:195926380-195926530	GM12865	blood:	n/a	n/a
45	CTCF	chr3:195926156-195926562	A549	lung:	n/a	n/a
46	CTCF	chr3:195926380-195926530	AG09319	gingival:	n/a	n/a
47	CTCF	chr3:195926319-195926516	GM12891	blood:	n/a	n/a
48	CTCF	chr3:195926360-195926510	GM12865	blood:	n/a	n/a
49	CTCF	chr3:195926360-195926510	GM12871	blood:	n/a	n/a
50	CTCF	chr3:195926376-195926486	GM10248	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195806834..195810300-chr3:195921968..195927592,7	MCF-7	breast:
2	chr3:195927182..195928702-chr3:196245885..196247775,2	K562	blood:
3	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
4	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:

No data

Variant related genes	Relation type
ZDHHC19	TF binding region
ENSG00000222335	TF binding region
ENSG00000252174	chromatin interactions
ENSG00000072274	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560143452	chr3:195926482-195926483	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs577054742	chr3:195926500-195926501	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs527394741	chr3:195926527-195926528	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs541026656	chr3:195926528-195926529	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs570980565	chr3:195926536-195926537	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs538414994	chr3:195926537-195926538	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs550239197	chr3:195926545-195926546	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs386670145	chr3:195926552-195926553	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146281017	chr3:195926554-195926555	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs112899967	chr3:195926589-195926590	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs574746029	chr3:195926610-195926611	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs139190629	chr3:195926612-195926613	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs149468329	chr3:195926614-195926615	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs563627266	chr3:195926620-195926621	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs530601499	chr3:195926635-195926636	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs576999650	chr3:195926636-195926637	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544386861	chr3:195926637-195926638	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs192641223	chr3:195926640-195926641	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs556561701	chr3:195926643-195926644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184624865	chr3:195926644-195926645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190532269	chr3:195926673-195926674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11922691	chr3:195926677-195926678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34898770	chr3:195926680-195926681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564190981	chr3:195926683-195926684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548346552	chr3:195926684-195926685	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7622459	chr3:195926685-195926686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568266057	chr3:195926686-195926687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372912420	chr3:195926688-195926689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547649623	chr3:195926689-195926690	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565756388	chr3:195926693-195926694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113772451	chr3:195926695-195926696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570132514	chr3:195926696-195926697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537103446	chr3:195926704-195926705	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550973393	chr3:195926708-195926709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189591873	chr3:195926709-195926710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539635978	chr3:195926711-195926712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs386670147	chr3:195926719-195926720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570256681	chr3:195926720-195926721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373870809	chr3:195926724-195926725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564071042	chr3:195926730-195926731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56850780	chr3:195926731-195926732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs181261898	chr3:195926732-195926733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs386670148	chr3:195926740-195926741	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368395733	chr3:195926747-195926748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534718817	chr3:195926748-195926749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552975172	chr3:195926749-195926750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4916489	chr3:195926752-195926753	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186246047	chr3:195926764-195926765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368365020	chr3:195926771-195926772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189000995	chr3:195926772-195926773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195919400-195929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:195920000-195929400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:195920200-195930400	Weak transcription	Esophagus	oesophagus
4	chr3:195920200-195930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:195921000-195928800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:195921200-195929400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:195921400-195929000	Weak transcription	Primary B cells from cord blood	blood
8	chr3:195921400-195929600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:195921600-195929200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
11	chr3:195921800-195929400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
13	chr3:195923600-195928800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:195923600-195929000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:195923600-195929000	Weak transcription	K562	blood
16	chr3:195923600-195929400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:195923600-195929600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:195923600-195930200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:195923800-195930200	Weak transcription	Spleen	Spleen
20	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
21	chr3:195924000-195929200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:195924200-195927000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:195924200-195929000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:195924400-195929000	Weak transcription	Placenta	Placenta
25	chr3:195924600-195929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:195925800-195926600	Bivalent Enhancer	HepG2	liver
27	chr3:195925800-195928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:195926200-195929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:195926200-195929200	Weak transcription	Adipose Nuclei	Adipose
30	chr3:195926400-195929400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:195926400-195929400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:195926400-195929400	Weak transcription	Ovary	ovary
33	chr3:195927000-195929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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