Variant report

Variant	esv3379740
Chromosome Location	chr3:144225847-144433818
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144418657..144420552-chr3:144431065..144433967,2	MCF-7	breast:
2	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
3	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
4	chr3:144418657..144420552-chr3:144431065..144433967,2	MCF-7	breast:
5	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
6	chr3:144323853..144325569-chr3:144326715..144329004,2	MCF-7	breast:
7	chr3:143688586..143691130-chr3:144236115..144237811,2	K562	blood:
8	chr3:143691164..143692662-chr3:144303953..144304678,4	MCF-7	breast:
9	chr3:144406468..144407248-chr3:144489335..144490305,3	MCF-7	breast:
10	chr3:143690536..143691103-chr3:144304085..144304961,2	MCF-7	breast:
11	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:
12	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
13	chr3:144404524..144406712-chr3:144419590..144422121,2	MCF-7	breast:
14	chr3:143690164..143692068-chr3:144303430..144306115,2	MCF-7	breast:
15	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
16	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:
17	chr3:144327567..144329487-chr3:144331119..144332711,2	K562	blood:
18	chr3:143689691..143692601-chr3:144357681..144359906,2	MCF-7	breast:
19	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:
20	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
21	chr3:144404524..144406712-chr3:144419590..144422121,2	MCF-7	breast:
22	chr3:144327567..144329487-chr3:144331119..144332711,2	K562	blood:
23	chr3:144323853..144325569-chr3:144326715..144329004,2	MCF-7	breast:
24	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-7	chr3:144332218-144333976	ncRnaDb_ncrna_FR098505_1

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000181744	chromatin interactions

Extended variants
information (count: 4448 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4448 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146725129	chr3:144229833-144229834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114078189	chr3:144229860-144229861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560445228	chr3:144229863-144229864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527990421	chr3:144229936-144229937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189391002	chr3:144229938-144229939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73011028	chr3:144229944-144229945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139455219	chr3:144229995-144229996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549887486	chr3:144230004-144230005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568040955	chr3:144230008-144230009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35478767	chr3:144230060-144230061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535478764	chr3:144230063-144230064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182091058	chr3:144230064-144230065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565142578	chr3:144230176-144230177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565955756	chr3:144230182-144230183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1527237	chr3:144230196-144230197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557629311	chr3:144230199-144230200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576228800	chr3:144230200-144230201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544375771	chr3:144230204-144230205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186065268	chr3:144230215-144230216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560964649	chr3:144230242-144230243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144129774	chr3:144230252-144230253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541783809	chr3:144230336-144230337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9811286	chr3:144230367-144230368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369298235	chr3:144230445-144230446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112209883	chr3:144230449-144230450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564511091	chr3:144230506-144230507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149131449	chr3:144230514-144230515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115060145	chr3:144230521-144230522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190284877	chr3:144230529-144230530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545806073	chr3:144230559-144230560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563891749	chr3:144230601-144230602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181087261	chr3:144230615-144230616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186647304	chr3:144230765-144230766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112803799	chr3:144230790-144230791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190635101	chr3:144230875-144230876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539345497	chr3:144230886-144230887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558081751	chr3:144230895-144230896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13066453	chr3:144230931-144230932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537283377	chr3:144230951-144230952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555155594	chr3:144230959-144230960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151281148	chr3:144230994-144230995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114091074	chr3:144230999-144231000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553710123	chr3:144231029-144231030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180774451	chr3:144231039-144231040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185181671	chr3:144231049-144231050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373024097	chr3:144231090-144231091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112576883	chr3:144231091-144231092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376540098	chr3:144231092-144231093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549639300	chr3:144231109-144231110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531928157	chr3:144231120-144231121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Pancreatic cancer	17952125	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

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144229800-144230200	Enhancers	Fetal Intestine Small	intestine
2	chr3:144230000-144230400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:144230400-144234400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:144234400-144235800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:144234600-144235800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:144235000-144235600	Enhancers	Fetal Lung	lung
7	chr3:144235000-144235800	Enhancers	Brain Hippocampus Middle	brain
8	chr3:144238800-144239000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:144239200-144239400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:144239200-144239600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:144240600-144241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:144240600-144241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:144240800-144241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:144240800-144241600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:144241000-144241400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:144241000-144242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:144241000-144242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:144241200-144241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:144241800-144243200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:144242400-144242600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:144242400-144243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:144243200-144243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:144243200-144243800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:144243200-144244000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:144243200-144244000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:144243200-144244000	Enhancers	Adipose Nuclei	Adipose
27	chr3:144243400-144244000	Enhancers	NHDF-Ad	bronchial
28	chr3:144247200-144249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:144247600-144247800	Enhancers	Fetal Intestine Large	intestine
30	chr3:144247600-144250000	Enhancers	Fetal Intestine Small	intestine
31	chr3:144248000-144248600	Weak transcription	Fetal Intestine Large	intestine
32	chr3:144248600-144248800	Enhancers	Fetal Intestine Large	intestine
33	chr3:144248800-144249400	Weak transcription	Fetal Intestine Large	intestine
34	chr3:144249200-144252600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:144249600-144249800	Enhancers	Fetal Intestine Large	intestine
36	chr3:144252600-144252800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:144252800-144253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:144253400-144254400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:144254400-144256200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:144255200-144259000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:144256200-144256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:144266000-144266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:144266400-144267800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:144266600-144267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:144266600-144267800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:144266600-144267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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