Variant report

Variant	nsv591931
Chromosome Location	chr3:144850047-144928287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
2	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
3	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
4	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
5	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
6	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:

Extended variants
information (count: 861 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371667254	chr3:144851254-144851255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376444556	chr3:144851270-144851271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557046143	chr3:144851296-144851297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112048367	chr3:144851339-144851340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549223643	chr3:144851394-144851395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201137633	chr3:144851445-144851446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs63716460	chr3:144851446-144851447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368722263	chr3:144851447-144851448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199750000	chr3:144851513-144851514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113605953	chr3:144851568-144851569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534930430	chr3:144851575-144851576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570642949	chr3:144851598-144851599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553033639	chr3:144851680-144851681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571219792	chr3:144851731-144851732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114831338	chr3:144851777-144851778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34050642	chr3:144851786-144851787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139046900	chr3:144851791-144851792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375063937	chr3:144851805-144851806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575015706	chr3:144851888-144851889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533009763	chr3:144851892-144851893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6793351	chr3:144851926-144851927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373434767	chr3:144851955-144851956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555935949	chr3:144851966-144851967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556068811	chr3:144851975-144851976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143952551	chr3:144852006-144852007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192795269	chr3:144852055-144852056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184415755	chr3:144852110-144852111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533342999	chr3:144852154-144852155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574385614	chr3:144852156-144852157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546385302	chr3:144852167-144852168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73874063	chr3:144852174-144852175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376460996	chr3:144852188-144852189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113036278	chr3:144852189-144852190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7638372	chr3:144852198-144852199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535494298	chr3:144852219-144852220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148637188	chr3:144852225-144852226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546852631	chr3:144852236-144852237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571486976	chr3:144852251-144852252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538218223	chr3:144852270-144852271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369915636	chr3:144852287-144852288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550162222	chr3:144852324-144852325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568571702	chr3:144852333-144852334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189288359	chr3:144852389-144852390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375292190	chr3:144852395-144852396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554412297	chr3:144852408-144852409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs180926789	chr3:144852445-144852446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113420941	chr3:144852446-144852447	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534938689	chr3:144852460-144852461	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553594865	chr3:144852503-144852504	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186125652	chr3:144852545-144852546	Enhancers Active TSS	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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144851200-144853400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:144851400-144853000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:144851800-144852400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:144851800-144853000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:144851800-144853400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:144852000-144852400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:144852000-144852400	Enhancers	A549	lung
8	chr3:144852000-144853400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:144852400-144852800	Active TSS	A549	lung
10	chr3:144852400-144853200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr3:144852400-144853400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:144852800-144853600	Flanking Active TSS	A549	lung
13	chr3:144853600-144854200	Enhancers	A549	lung
14	chr3:144861800-144863600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:144862000-144862400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:144862000-144862600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:144862200-144862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:144862600-144863000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:144863000-144863600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:144863200-144863600	Enhancers	Brain Germinal Matrix	brain
21	chr3:144877000-144878000	Enhancers	Fetal Heart	heart
22	chr3:144879000-144879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:144887400-144888400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:144887600-144888200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:144887600-144888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:144887600-144888600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:144887600-144890000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:144887800-144888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:144887800-144888400	Enhancers	Brain Cingulate Gyrus	brain
30	chr3:144887800-144888400	Enhancers	Fetal Heart	heart
31	chr3:144888000-144888400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:144888000-144888400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:144888000-144888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:144888000-144888400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:144888000-144888400	Enhancers	Aorta	Aorta
36	chr3:144888000-144888400	Enhancers	Brain Angular Gyrus	brain
37	chr3:144898400-144900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:144898600-144899400	Enhancers	Colon Smooth Muscle	Colon
39	chr3:144898600-144899400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:144898600-144899600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:144898600-144900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:144898600-144900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:144898600-144900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:144898600-144900600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:144898800-144899400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:144898800-144899400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:144898800-144899400	Enhancers	Fetal Brain Female	brain
48	chr3:144898800-144899600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:144898800-144900400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:144899000-144899200	Enhancers	H9 Cell Line	embryonic stem cell

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