Variant report

Variant	nsv1000904
Chromosome Location	chr3:158094357-158159317
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158116256..158122460-chr3:158123210..158127846,6	K562	blood:
2	chr3:158100498..158103302-chr3:158106866..158108793,2	K562	blood:
3	chr3:158136221..158139181-chr3:158142409..158144374,2	K562	blood:
4	chr3:158129475..158131911-chr3:158133397..158135455,2	K562	blood:
5	chr3:158093335..158095765-chr3:158098415..158100643,2	MCF-7	breast:
6	chr3:158093335..158095765-chr3:158098415..158100643,2	MCF-7	breast:
7	chr3:158151947..158152666-chr3:158249618..158250586,2	MCF-7	breast:
8	chr3:158130354..158133315-chr3:158135794..158137911,2	MCF-7	breast:
9	chr3:157582834..157583782-chr3:158151875..158152396,2	K562	blood:
10	chr3:158120939..158122678-chr3:158123102..158125288,2	MCF-7	breast:
11	chr3:158100498..158103302-chr3:158106866..158108793,2	K562	blood:
12	chr3:158136221..158139181-chr3:158142409..158144374,2	K562	blood:
13	chr3:158129475..158131911-chr3:158133397..158135455,2	K562	blood:
14	chr3:158120939..158122678-chr3:158123102..158125288,2	MCF-7	breast:
15	chr3:158116256..158122460-chr3:158123210..158127846,6	K562	blood:
16	chr3:157809105..157810341-chr3:158151834..158152745,6	MCF-7	breast:
17	chr3:158130354..158133315-chr3:158135794..158137911,2	MCF-7	breast:
18	chr3:157809115..157809977-chr3:158151874..158152457,2	K562	blood:
19	chr3:158046999..158049118-chr3:158139180..158140749,2	MCF-7	breast:

No data

Extended variants
information (count: 1984 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1984 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28578723	chr3:158095220-158095221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540321020	chr3:158095249-158095250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562220866	chr3:158095264-158095265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73170358	chr3:158095278-158095279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146239943	chr3:158095297-158095298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189686382	chr3:158095298-158095299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533480103	chr3:158095318-158095319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139352444	chr3:158095326-158095327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200056280	chr3:158095385-158095386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76642689	chr3:158095408-158095409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192901820	chr3:158095432-158095433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77191739	chr3:158095449-158095450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76836955	chr3:158095460-158095461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548765446	chr3:158095512-158095513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57519456	chr3:158095522-158095523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183952383	chr3:158095535-158095536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570128314	chr3:158095576-158095577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76981823	chr3:158095637-158095638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147224417	chr3:158095655-158095656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373048594	chr3:158095656-158095657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571554850	chr3:158095672-158095673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538601165	chr3:158095717-158095718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554037213	chr3:158095753-158095754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144443034	chr3:158095815-158095816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140146774	chr3:158095854-158095855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370608702	chr3:158095930-158095931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373709965	chr3:158095988-158095989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150254480	chr3:158096045-158096046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573824491	chr3:158096095-158096096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544214822	chr3:158096098-158096099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371267385	chr3:158096127-158096128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562501060	chr3:158096133-158096134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35459379	chr3:158096176-158096177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372774218	chr3:158096208-158096209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145712395	chr3:158096229-158096230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546600890	chr3:158096326-158096327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549069496	chr3:158096333-158096334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375822515	chr3:158096414-158096415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567642996	chr3:158096415-158096416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12638258	chr3:158096434-158096435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs527911460	chr3:158096508-158096509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549529888	chr3:158096539-158096540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73017454	chr3:158096585-158096586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370302377	chr3:158096593-158096594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112900749	chr3:158096610-158096611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549808169	chr3:158096638-158096639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571311866	chr3:158096665-158096666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538620812	chr3:158096678-158096679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77646064	chr3:158096687-158096688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565943173	chr3:158096704-158096705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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	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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158095200-158095400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:158095400-158096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:158096000-158096600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:158096400-158096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:158096600-158099000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:158098800-158099600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:158099000-158099200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:158099000-158099400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:158099000-158099400	Enhancers	NHDF-Ad	bronchial
10	chr3:158100000-158100600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:158100000-158100600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:158100200-158100800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:158100800-158113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:158104800-158105800	Enhancers	Fetal Heart	heart
15	chr3:158107400-158108000	Enhancers	Stomach Mucosa	stomach
16	chr3:158107600-158107800	Enhancers	Fetal Heart	heart
17	chr3:158107600-158108000	Enhancers	HepG2	liver
18	chr3:158107800-158108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:158108000-158111200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:158108200-158109200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:158109200-158109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:158109200-158110000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:158111600-158112400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:158113200-158114000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:158116000-158116200	Enhancers	Psoas Muscle	Psoas
26	chr3:158121800-158122200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:158122000-158122400	Enhancers	Fetal Heart	heart
28	chr3:158122000-158122600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:158122400-158126000	Weak transcription	Fetal Heart	heart
30	chr3:158123000-158123400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:158123000-158123600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:158123200-158123800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:158123400-158128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:158123600-158124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:158124600-158124800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:158124600-158125000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:158124600-158146600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:158124800-158125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:158124800-158126600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:158125000-158126000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:158125200-158125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:158125600-158125800	Enhancers	K562	blood
43	chr3:158125600-158126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:158125600-158126400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:158125800-158126000	Flanking Active TSS	K562	blood
46	chr3:158125800-158126200	Enhancers	Fetal Lung	lung
47	chr3:158125800-158126400	Enhancers	NHDF-Ad	bronchial
48	chr3:158126000-158126200	Enhancers	K562	blood
49	chr3:158126000-158126400	Enhancers	Fetal Heart	heart
50	chr3:158126000-158126600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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