Variant report

Variant	nsv877571
Chromosome Location	chr3:144188561-144291254
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153580940..153582973-chr3:144219455..144221982,2	MCF-7	breast:
2	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:
3	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
4	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:
5	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
6	chr3:143688586..143691130-chr3:144236115..144237811,2	K562	blood:
7	chr3:143691583..143692190-chr3:144216201..144216835,2	MCF-7	breast:
8	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
9	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
10	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
11	chr3:143690347..143692960-chr3:144205588..144207110,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9A9-2	chr3:144202378-144202999	refGeneNc_4352_NR_034032
2	lnc-C3orf58-6	chr3:144224851-144225242	expReg_chr3_9920_+

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions
ENSG00000188643	chromatin interactions

Extended variants
information (count: 2599 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2599 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9857613	chr3:144188561-144188562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79956401	chr3:144188567-144188568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534570105	chr3:144188648-144188649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74612945	chr3:144188651-144188652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541615682	chr3:144188687-144188688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552788567	chr3:144188724-144188725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114544800	chr3:144188738-144188739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574446915	chr3:144188767-144188768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371878974	chr3:144188831-144188832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149734516	chr3:144188870-144188871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530539632	chr3:144188943-144188944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551592251	chr3:144188960-144188961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542519517	chr3:144188974-144188975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190389423	chr3:144189003-144189004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145710802	chr3:144189016-144189017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546822128	chr3:144189024-144189025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181119722	chr3:144189086-144189087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148920894	chr3:144189124-144189125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143716557	chr3:144189194-144189195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569687350	chr3:144189254-144189255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79631205	chr3:144189270-144189271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79124629	chr3:144189272-144189273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377576934	chr3:144189279-144189280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13076585	chr3:144189280-144189281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201567360	chr3:144189282-144189283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554518928	chr3:144189283-144189284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113375508	chr3:144189284-144189285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373869101	chr3:144189285-144189286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200247461	chr3:144189287-144189288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9862784	chr3:144189288-144189289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201824887	chr3:144189300-144189301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200112482	chr3:144189302-144189303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543055357	chr3:144189339-144189340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73009074	chr3:144189355-144189356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373366238	chr3:144189387-144189388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534896620	chr3:144189407-144189408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186556938	chr3:144189441-144189442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147701942	chr3:144189450-144189451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142407203	chr3:144189573-144189574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557062304	chr3:144189586-144189587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575332392	chr3:144189598-144189599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201655823	chr3:144189601-144189602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575268289	chr3:144189604-144189605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375775226	chr3:144189615-144189616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7648433	chr3:144189668-144189669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563394225	chr3:144189759-144189760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73009076	chr3:144189783-144189784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573501547	chr3:144189803-144189804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540040228	chr3:144189809-144189810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564767855	chr3:144189856-144189857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144188200-144189000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:144188400-144188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:144188400-144189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:144188400-144189000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:144188400-144189000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:144188400-144189000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:144188400-144189000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:144189000-144193000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:144189000-144193400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:144193000-144193800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:144193000-144194600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:144193200-144194000	Enhancers	Brain Hippocampus Middle	brain
13	chr3:144193400-144194600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:144193800-144196200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:144194600-144194800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:144196200-144197400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:144201400-144201800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:144201600-144201800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:144201600-144202000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:144201800-144202000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:144201800-144202200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:144201800-144202200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:144201800-144202400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:144201800-144202800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:144201800-144203400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:144201800-144203600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:144202000-144202600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:144202200-144203600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:144202400-144202600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:144202400-144203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:144202600-144203400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:144203400-144203600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:144203400-144208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:144210200-144210600	Enhancers	Fetal Muscle Leg	muscle
35	chr3:144210200-144210800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:144210200-144210800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:144210200-144210800	Enhancers	Fetal Stomach	stomach
38	chr3:144210800-144215400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:144213200-144215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:144214600-144215600	Enhancers	Fetal Lung	lung
41	chr3:144214800-144215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:144214800-144215600	Enhancers	Brain Anterior Caudate	brain
43	chr3:144214800-144215600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:144215000-144215400	Enhancers	Brain Substantia Nigra	brain
45	chr3:144215000-144215600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:144215000-144215600	Enhancers	Brain Hippocampus Middle	brain
47	chr3:144215200-144215400	Enhancers	Brain Cingulate Gyrus	brain
48	chr3:144215200-144215400	Enhancers	HUVEC	blood vessel
49	chr3:144215200-144215600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:144215200-144215600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links