Variant report

Variant	nsv821194
Chromosome Location	chr14:105407011-105420097
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105397107..105399280-chr14:105419920..105422847,2	MCF-7	breast:
2	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:
3	chr14:105362730..105363610-chr14:105406815..105407855,5	MCF-7	breast:
4	chr14:105293691..105294557-chr14:105406827..105407640,3	MCF-7	breast:
5	chr14:105234995..105235860-chr14:105406869..105407692,2	MCF-7	breast:
6	chr14:105402513..105405385-chr14:105405558..105407496,3	K562	blood:
7	chr14:105363028..105363697-chr14:105406799..105407525,3	MCF-7	breast:
8	chr14:105361378..105363215-chr14:105404898..105407552,2	K562	blood:
9	chr14:105406835..105407618-chr14:105511905..105512554,2	MCF-7	breast:
10	chr14:105405873..105407482-chr14:105449150..105451992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185567	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000258430	chromatin interactions

Extended variants
information (count: 2312 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2312 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11623422	chr14:105407031-105407032	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546249437	chr14:105407043-105407044	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149863648	chr14:105407058-105407059	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538273721	chr14:105407086-105407087	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551739445	chr14:105407097-105407098	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373317852	chr14:105407098-105407099	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529034261	chr14:105407111-105407112	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201926627	chr14:105407117-105407118	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369715461	chr14:105407135-105407136	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11851053	chr14:105407208-105407209	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs199715548	chr14:105407209-105407210	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200600689	chr14:105407211-105407212	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370915460	chr14:105407226-105407227	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74090119	chr14:105407253-105407254	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs267603896	chr14:105407282-105407283	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376975099	chr14:105407287-105407288	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201067783	chr14:105407322-105407323	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77215854	chr14:105407327-105407328	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368977213	chr14:105407344-105407345	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367968016	chr14:105407350-105407351	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190966729	chr14:105407366-105407367	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34153674	chr14:105407374-105407375	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544448180	chr14:105407393-105407394	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201717878	chr14:105407444-105407445	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375488125	chr14:105407462-105407463	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368536920	chr14:105407468-105407469	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372727609	chr14:105407477-105407478	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373792289	chr14:105407484-105407485	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367659944	chr14:105407494-105407495	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148568410	chr14:105407502-105407503	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376209627	chr14:105407512-105407513	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76611205	chr14:105407525-105407526	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371953935	chr14:105407538-105407539	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200690287	chr14:105407539-105407540	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369983671	chr14:105407589-105407590	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373884407	chr14:105407590-105407591	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376262717	chr14:105407596-105407597	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182857858	chr14:105407601-105407602	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372500718	chr14:105407610-105407611	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377189197	chr14:105407617-105407618	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200043023	chr14:105407666-105407667	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74922959	chr14:105407676-105407677	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537351717	chr14:105407697-105407698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377637525	chr14:105407698-105407699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371371069	chr14:105407702-105407703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142930089	chr14:105407710-105407711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375463111	chr14:105407741-105407742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200450338	chr14:105407749-105407750	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201648026	chr14:105407770-105407771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201214310	chr14:105407788-105407789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
5	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
9	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:105403400-105407800	Weak transcription	Gastric	stomach
11	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr14:105403600-105408800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
14	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:105404200-105410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:105404400-105408400	Strong transcription	A549	lung
18	chr14:105404400-105412800	Strong transcription	Fetal Stomach	stomach
19	chr14:105404800-105408600	Strong transcription	Colon Smooth Muscle	Colon
20	chr14:105405000-105413400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105405200-105409400	Strong transcription	NHEK	skin
22	chr14:105405400-105407400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:105405400-105409000	Strong transcription	Rectal Smooth Muscle	rectum
24	chr14:105405400-105412000	Strong transcription	Esophagus	oesophagus
25	chr14:105405600-105407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:105405600-105408800	Strong transcription	NHDF-Ad	bronchial
27	chr14:105405800-105407600	Strong transcription	HMEC	breast
28	chr14:105406400-105408000	Strong transcription	HSMM	muscle
29	chr14:105406400-105408200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr14:105406600-105407200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:105406600-105407200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:105406600-105408000	Strong transcription	HSMMtube	muscle
33	chr14:105406800-105407200	Enhancers	Spleen	Spleen
34	chr14:105406800-105407400	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:105406800-105421600	Weak transcription	NHLF	lung
36	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
37	chr14:105407000-105408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
39	chr14:105407200-105407800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
41	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:105407400-105410600	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:105407600-105419800	Weak transcription	HMEC	breast
45	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:105407800-105408400	Strong transcription	Gastric	stomach
47	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
49	chr14:105408000-105421000	Weak transcription	HSMM	muscle
50	chr14:105408200-105408800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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