Variant report

Variant	nsv829747
Chromosome Location	chr3:144463330-144654092
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144561413..144562304-chr3:145485449..145486072,2	MCF-7	breast:
2	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
3	chr3:144459658..144462426-chr3:144481491..144483613,2	K562	blood:
4	chr3:143689984..143692553-chr3:144495205..144498104,2	MCF-7	breast:
5	chr3:144640641..144642576-chr3:144644926..144648112,3	K562	blood:
6	chr3:143694539..143695086-chr3:144489593..144490285,2	MCF-7	breast:
7	chr3:143689621..143691420-chr3:144483860..144486695,2	MCF-7	breast:
8	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
9	chr3:144406468..144407248-chr3:144489335..144490305,3	MCF-7	breast:
10	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:
11	chr17:57915602..57917175-chr3:144590295..144592876,2	MCF-7	breast:
12	chr3:143690596..143692811-chr3:144488722..144490239,2	MCF-7	breast:
13	chr3:143689459..143691462-chr3:144489230..144491259,2	MCF-7	breast:
14	chr3:144547825..144550873-chr3:144553583..144558311,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 4004 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:4004 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10513246	chr3:144463333-144463334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546298280	chr3:144463351-144463352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571050180	chr3:144463375-144463376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78253714	chr3:144463382-144463383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116686469	chr3:144463392-144463393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112898024	chr3:144463397-144463398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2069065	chr3:144463398-144463399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554878345	chr3:144463406-144463407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535161363	chr3:144463409-144463410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566678442	chr3:144463475-144463476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2069066	chr3:144463512-144463513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558779255	chr3:144463559-144463560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367879341	chr3:144463599-144463600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555205656	chr3:144463642-144463643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35252113	chr3:144463681-144463682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5853178	chr3:144463717-144463718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397755516	chr3:144463723-144463724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191002220	chr3:144463746-144463747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557090349	chr3:144463923-144463924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575564808	chr3:144463933-144463934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542915537	chr3:144463940-144463941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145255396	chr3:144464005-144464006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536429608	chr3:144464011-144464012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540471110	chr3:144464014-144464015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573583050	chr3:144464079-144464080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116098980	chr3:144464108-144464109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371530907	chr3:144464133-144464134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550617370	chr3:144464148-144464149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141283144	chr3:144464161-144464162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145042357	chr3:144464178-144464179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529647401	chr3:144464187-144464188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182490203	chr3:144464198-144464199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556113115	chr3:144464200-144464201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146857807	chr3:144464255-144464256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534055370	chr3:144464266-144464267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571931215	chr3:144464310-144464311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186294210	chr3:144464325-144464326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12631743	chr3:144464344-144464345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140658055	chr3:144464369-144464370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557378209	chr3:144464372-144464373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148684483	chr3:144464393-144464394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575557753	chr3:144464413-144464414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536287225	chr3:144464462-144464463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60322313	chr3:144464483-144464484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573229145	chr3:144464494-144464495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61429069	chr3:144464573-144464574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143842922	chr3:144464576-144464577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57139281	chr3:144464579-144464580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543976553	chr3:144464588-144464589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73157532	chr3:144464615-144464616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144461400-144463400	Enhancers	Fetal Intestine Large	intestine
2	chr3:144461400-144463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:144461600-144463400	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:144461600-144463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:144462800-144463800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:144463000-144466000	Weak transcription	Fetal Intestine Small	intestine
7	chr3:144463400-144465600	Weak transcription	Fetal Intestine Large	intestine
8	chr3:144465200-144466200	Enhancers	Brain Hippocampus Middle	brain
9	chr3:144465400-144465600	Enhancers	Brain Substantia Nigra	brain
10	chr3:144465400-144466400	Enhancers	Brain Angular Gyrus	brain
11	chr3:144465400-144466400	Enhancers	Brain Anterior Caudate	brain
12	chr3:144465400-144466400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:144465600-144465800	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr3:144465600-144466000	Active TSS	Brain Cingulate Gyrus	brain
15	chr3:144465600-144466200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:144465600-144466200	Enhancers	Adipose Nuclei	Adipose
17	chr3:144465600-144466200	Enhancers	Fetal Intestine Large	intestine
18	chr3:144465800-144467000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:144465800-144467000	Enhancers	Brain Substantia Nigra	brain
20	chr3:144466000-144466200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr3:144466000-144466400	Enhancers	Ovary	ovary
22	chr3:144466000-144466800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:144466000-144467600	Enhancers	Fetal Intestine Small	intestine
24	chr3:144466200-144467000	Weak transcription	Fetal Intestine Large	intestine
25	chr3:144466200-144467000	Enhancers	Fetal Lung	lung
26	chr3:144466200-144467200	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:144466400-144467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:144466800-144467200	Enhancers	Fetal Brain Male	brain
29	chr3:144467000-144467200	Enhancers	Fetal Intestine Large	intestine
30	chr3:144467400-144467800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:144467800-144469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:144469600-144469800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:144469800-144475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:144470000-144471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:144470000-144471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:144470000-144471600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:144470200-144471400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:144470400-144471400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:144472800-144473200	Enhancers	HSMM	muscle
40	chr3:144472800-144474200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:144473000-144473600	Enhancers	Gastric	stomach
42	chr3:144473200-144474000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:144473600-144475600	Weak transcription	Gastric	stomach
44	chr3:144475600-144476000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:144475600-144476000	ZNF genes & repeats	Gastric	stomach
46	chr3:144476000-144476400	Weak transcription	Gastric	stomach
47	chr3:144476400-144482800	Weak transcription	Aorta	Aorta
48	chr3:144479200-144480000	Enhancers	Fetal Heart	heart
49	chr3:144479600-144480200	Enhancers	Fetal Lung	lung
50	chr3:144480200-144483000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links