Variant report

Variant	esv3439219
Chromosome Location	chr14:105334557-105337055
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	chr14:105330056..105332621-chr14:105333447..105336321,4	K562	blood:
2	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
3	chr14:105336757..105339297-chr14:105435240..105438194,2	MCF-7	breast:
4	chr14:105251130..105253358-chr14:105336625..105339105,2	MCF-7	breast:
5	chr14:105336440..105340478-chr14:105340944..105342699,3	MCF-7	breast:
6	chr14:105241026..105242712-chr14:105333363..105335945,2	K562	blood:
7	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
8	chr14:105189441..105191218-chr14:105333111..105335603,2	MCF-7	breast:
9	chr14:105336666..105339518-chr14:105438239..105440025,2	MCF-7	breast:
10	chr14:105260411..105262447-chr14:105335972..105338023,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185100	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000185567	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191070524	chr14:105334560-105334561	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs563641519	chr14:105334643-105334644	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529198410	chr14:105334646-105334647	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs74090086	chr14:105334648-105334649	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559597727	chr14:105334669-105334670	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528315851	chr14:105334711-105334712	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531918050	chr14:105334784-105334785	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576696102	chr14:105334796-105334797	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183217990	chr14:105334799-105334800	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571039825	chr14:105334867-105334868	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368068386	chr14:105334906-105334907	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550176070	chr14:105334963-105334964	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs56752713	chr14:105334967-105334968	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12431850	chr14:105335049-105335050	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533598431	chr14:105335067-105335068	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs111847403	chr14:105335119-105335120	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555831447	chr14:105335122-105335123	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368461266	chr14:105335178-105335179	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs185393680	chr14:105335186-105335187	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190894412	chr14:105335205-105335206	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs547188323	chr14:105335291-105335292	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs116010518	chr14:105335296-105335297	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs578156812	chr14:105335316-105335317	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs543897741	chr14:105335317-105335318	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372249961	chr14:105335321-105335322	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs557397772	chr14:105335340-105335341	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs377106141	chr14:105335375-105335376	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs574144030	chr14:105335486-105335487	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574000506	chr14:105335489-105335490	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs72700150	chr14:105335520-105335521	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539061561	chr14:105335562-105335563	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183145364	chr14:105335567-105335568	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528367670	chr14:105335575-105335576	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143881327	chr14:105335589-105335590	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544827016	chr14:105335592-105335593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs72700152	chr14:105335630-105335631	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530528336	chr14:105335659-105335660	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576387273	chr14:105335664-105335665	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2841225	chr14:105335710-105335711	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529693587	chr14:105335714-105335715	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546557263	chr14:105335753-105335754	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555573227	chr14:105335767-105335768	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572272528	chr14:105335789-105335790	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566269377	chr14:105335840-105335841	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77234894	chr14:105335857-105335858	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7150468	chr14:105335878-105335879	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571824756	chr14:105335901-105335902	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199540344	chr14:105335905-105335906	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375860503	chr14:105335913-105335914	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557532834	chr14:105335994-105335995	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	19587683	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

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105332600-105334600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:105332600-105335200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:105332800-105334800	Enhancers	Liver	Liver
4	chr14:105333000-105335000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:105333200-105334600	Enhancers	Adipose Nuclei	Adipose
6	chr14:105333200-105334600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:105333200-105334600	Genic enhancers	Esophagus	oesophagus
8	chr14:105333200-105334600	Enhancers	Fetal Intestine Large	intestine
9	chr14:105333200-105336000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:105333200-105336200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:105333200-105338400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:105333200-105338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:105333200-105338800	Weak transcription	Fetal Kidney	kidney
14	chr14:105333200-105338800	Weak transcription	Ovary	ovary
15	chr14:105333200-105342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:105333200-105344200	Weak transcription	Aorta	Aorta
17	chr14:105333200-105346600	Weak transcription	Brain Angular Gyrus	brain
18	chr14:105333200-105346800	Weak transcription	Brain Substantia Nigra	brain
19	chr14:105333200-105346800	Weak transcription	A549	lung
20	chr14:105333200-105347200	Weak transcription	Left Ventricle	heart
21	chr14:105333400-105334600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:105333400-105334800	Genic enhancers	Fetal Intestine Small	intestine
23	chr14:105333400-105335000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:105333400-105335000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:105333400-105337800	Weak transcription	Right Ventricle	heart
26	chr14:105333400-105339200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:105333400-105344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:105333400-105344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:105333400-105344600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:105333400-105344800	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
32	chr14:105333600-105334600	Genic enhancers	Gastric	stomach
33	chr14:105333600-105334800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:105333600-105336000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:105333600-105336800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:105333600-105338800	Weak transcription	Fetal Lung	lung
37	chr14:105333600-105346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:105333600-105346600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:105333800-105334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:105333800-105335200	Weak transcription	Lung	lung
41	chr14:105333800-105335400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:105333800-105335600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:105333800-105336000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:105333800-105338800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:105333800-105343400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:105333800-105344400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:105334000-105334800	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:105334000-105335200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:105334000-105335200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:105334000-105335400	Weak transcription	Rectal Mucosa Donor 29	rectum

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