Variant report

Variant	nsv1004366
Chromosome Location	chr3:21265829-21343596
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	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
2	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
3	chr1:38156682..38159494-chr3:21306018..21307587,2	K562	blood:
4	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
5	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
6	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
7	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
8	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
9	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
10	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
11	chr3:21331844..21332737-chr5:18941538..18942038,2	MCF-7	breast:
12	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
13	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
14	chr3:21274702..21276486-chr9:12852043..12854335,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116922	chromatin interactions
ENSG00000134690	chromatin interactions

Extended variants
information (count: 1719 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1719 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17008251	chr3:21265829-21265830	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543523553	chr3:21265846-21265847	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs551467010	chr3:21265855-21265856	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs13063191	chr3:21265871-21265872	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185096398	chr3:21265882-21265883	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115982106	chr3:21265890-21265891	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs560227705	chr3:21265917-21265918	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562398406	chr3:21265928-21265929	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs527566308	chr3:21265970-21265971	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs190034480	chr3:21265982-21265983	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs386659153	chr3:21266015-21266016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185647340	chr3:21266016-21266017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145166979	chr3:21266067-21266068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531293680	chr3:21266092-21266093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549906366	chr3:21266124-21266125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188217741	chr3:21266126-21266127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs727611	chr3:21266130-21266131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547957238	chr3:21266194-21266195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113330407	chr3:21266228-21266229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200668726	chr3:21266239-21266240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538375793	chr3:21266253-21266254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536976656	chr3:21266259-21266260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565604101	chr3:21266270-21266271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554928881	chr3:21266292-21266293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569581366	chr3:21266306-21266307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556943534	chr3:21266352-21266353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558201754	chr3:21266370-21266371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532084532	chr3:21266382-21266383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181014721	chr3:21266413-21266414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185679245	chr3:21266424-21266425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551797998	chr3:21266429-21266430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371186194	chr3:21266439-21266440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576917326	chr3:21266478-21266479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4857984	chr3:21266504-21266505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560271517	chr3:21266536-21266537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572119447	chr3:21266609-21266610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376575206	chr3:21266684-21266685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536627663	chr3:21266720-21266721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140281020	chr3:21266726-21266727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560980709	chr3:21266768-21266769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531382135	chr3:21266782-21266783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146414683	chr3:21266813-21266814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140725805	chr3:21266822-21266823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150097045	chr3:21266839-21266840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566281299	chr3:21266840-21266841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138431559	chr3:21266888-21266889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148863280	chr3:21266889-21266890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541576637	chr3:21266891-21266892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570008184	chr3:21266903-21266904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370614728	chr3:21266912-21266913	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21264600-21266000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
2	chr3:21265200-21266000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr3:21265200-21266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:21265200-21266600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:21265400-21266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:21265400-21266600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:21265600-21266000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:21265600-21266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:21266400-21266800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:21266800-21267000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:21267000-21274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:21267600-21267800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:21267600-21268000	ZNF genes & repeats	Pancreas	Pancrea
14	chr3:21267800-21268000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:21267800-21268800	Enhancers	Fetal Lung	lung
16	chr3:21268800-21271200	Weak transcription	Fetal Lung	lung
17	chr3:21271200-21271800	Enhancers	Fetal Lung	lung
18	chr3:21274600-21274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:21276600-21277400	Enhancers	Fetal Brain Male	brain
20	chr3:21279200-21279600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:21296800-21297200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:21297000-21298200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:21297400-21297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:21298000-21299400	Enhancers	Brain Germinal Matrix	brain
25	chr3:21298000-21299400	Enhancers	Fetal Heart	heart
26	chr3:21298200-21298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:21298400-21298600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:21298400-21298800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:21298400-21298800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:21298400-21299000	Enhancers	Fetal Lung	lung
31	chr3:21298400-21299800	Enhancers	Colon Smooth Muscle	Colon
32	chr3:21298400-21300200	Enhancers	Stomach Mucosa	stomach
33	chr3:21298600-21299000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:21299000-21301200	Weak transcription	Fetal Lung	lung
35	chr3:21299400-21299800	Flanking Active TSS	Fetal Heart	heart
36	chr3:21299400-21301200	Weak transcription	Brain Germinal Matrix	brain
37	chr3:21299800-21300200	Enhancers	Fetal Heart	heart
38	chr3:21300000-21300200	Enhancers	Fetal Kidney	kidney
39	chr3:21300200-21301200	Weak transcription	Fetal Heart	heart
40	chr3:21300200-21301200	Weak transcription	Fetal Kidney	kidney
41	chr3:21301200-21301400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:21301200-21301400	Enhancers	Fetal Heart	heart
43	chr3:21301200-21301800	Enhancers	Brain Germinal Matrix	brain
44	chr3:21301200-21301800	Enhancers	Fetal Kidney	kidney
45	chr3:21301200-21301800	Enhancers	Fetal Stomach	stomach
46	chr3:21301200-21302200	Enhancers	Fetal Lung	lung
47	chr3:21301400-21303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:21301800-21303200	Weak transcription	Brain Germinal Matrix	brain
49	chr3:21303200-21303400	Enhancers	Brain Germinal Matrix	brain
50	chr3:21309600-21314600	Weak transcription	Fetal Brain Male	brain

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