Variant report

Variant	esv3324268
Chromosome Location	chr14:105336957-105339755
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105336440..105340478-chr14:105340944..105342699,3	MCF-7	breast:
2	chr14:105260411..105262447-chr14:105335972..105338023,2	MCF-7	breast:
3	chr14:105336666..105339518-chr14:105438239..105440025,2	MCF-7	breast:
4	chr14:105337863..105340802-chr14:105451441..105454537,3	MCF-7	breast:
5	chr14:105251130..105253358-chr14:105336625..105339105,2	MCF-7	breast:
6	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
7	chr14:105336757..105339297-chr14:105435240..105438194,2	MCF-7	breast:
8	chr14:105261883..105264033-chr14:105337531..105339628,2	MCF-7	breast:
9	chr14:105337782..105339687-chr14:105357084..105359181,2	MCF-7	breast:
10	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
11	chr14:105282326..105284059-chr14:105337774..105340057,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHNAK2-6	chr14:105337647-105338626	NONHSAT040303
2	lnc-AHNAK2-6	chr14:105338787-105339212	NONHSAT040303

No data

Variant related genes	Relation type
ENSG00000140104	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000185567	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548019147	chr14:105336958-105336959	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375234580	chr14:105336982-105336983	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547117627	chr14:105336988-105336989	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566616330	chr14:105336998-105336999	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79821257	chr14:105337019-105337020	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372125696	chr14:105337020-105337021	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575185879	chr14:105337036-105337037	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538107815	chr14:105337039-105337040	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117381287	chr14:105337063-105337064	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150869689	chr14:105337135-105337136	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533080354	chr14:105337193-105337194	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549473891	chr14:105337208-105337209	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs60644250	chr14:105337250-105337251	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545836035	chr14:105337254-105337255	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569688702	chr14:105337255-105337256	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562435111	chr14:105337273-105337274	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs56688900	chr14:105337286-105337287	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551208767	chr14:105337287-105337288	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369879438	chr14:105337381-105337382	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573487764	chr14:105337387-105337388	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535699905	chr14:105337484-105337485	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2841228	chr14:105337487-105337488	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530357835	chr14:105337495-105337496	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546863382	chr14:105337498-105337499	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2841229	chr14:105337525-105337526	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74524101	chr14:105337537-105337538	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552167467	chr14:105337572-105337573	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139313255	chr14:105337598-105337599	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149998436	chr14:105337636-105337637	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554891697	chr14:105337663-105337664	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs147667846	chr14:105337664-105337665	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs577233805	chr14:105337718-105337719	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs79329097	chr14:105337720-105337721	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs577030636	chr14:105337743-105337744	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs373184169	chr14:105337770-105337771	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs28427389	chr14:105337803-105337804	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs556200224	chr14:105337814-105337815	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs576033446	chr14:105337827-105337828	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs113715066	chr14:105337876-105337877	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs376495930	chr14:105337879-105337880	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs561659698	chr14:105337905-105337906	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs530304404	chr14:105337981-105337982	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs555311013	chr14:105338040-105338041	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs540841311	chr14:105338097-105338098	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs532115877	chr14:105338136-105338137	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs550343088	chr14:105338137-105338138	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs144558347	chr14:105338156-105338157	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs560276757	chr14:105338193-105338194	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs532477801	chr14:105338252-105338253	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs369531044	chr14:105338276-105338277	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 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:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105333200-105338400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:105333200-105338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:105333200-105338800	Weak transcription	Fetal Kidney	kidney
4	chr14:105333200-105338800	Weak transcription	Ovary	ovary
5	chr14:105333200-105342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:105333200-105344200	Weak transcription	Aorta	Aorta
7	chr14:105333200-105346600	Weak transcription	Brain Angular Gyrus	brain
8	chr14:105333200-105346800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:105333200-105346800	Weak transcription	A549	lung
10	chr14:105333200-105347200	Weak transcription	Left Ventricle	heart
11	chr14:105333400-105337800	Weak transcription	Right Ventricle	heart
12	chr14:105333400-105339200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:105333400-105344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:105333400-105344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:105333400-105344600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:105333400-105344800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:105333400-105349200	Weak transcription	Small Intestine	intestine
18	chr14:105333600-105338800	Weak transcription	Fetal Lung	lung
19	chr14:105333600-105346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:105333600-105346600	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:105333800-105338800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:105333800-105343400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:105333800-105344400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:105334000-105338000	Weak transcription	HSMM	muscle
25	chr14:105334000-105338200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:105334000-105338400	Strong transcription	NHLF	lung
27	chr14:105334000-105338600	Weak transcription	NH-A	brain
28	chr14:105334000-105346800	Weak transcription	Brain Anterior Caudate	brain
29	chr14:105334200-105338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:105334200-105338800	Weak transcription	Osteobl	bone
31	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:105334400-105338400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:105334400-105338400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:105334400-105338400	Weak transcription	NHDF-Ad	bronchial
35	chr14:105334400-105338600	Weak transcription	Stomach Mucosa	stomach
36	chr14:105334400-105342400	Weak transcription	Hela-S3	cervix
37	chr14:105334400-105342400	Weak transcription	HepG2	liver
38	chr14:105334400-105348600	Weak transcription	Fetal Brain Male	brain
39	chr14:105334600-105338200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:105334600-105338200	Strong transcription	Gastric	stomach
41	chr14:105334600-105338400	Weak transcription	Adipose Nuclei	Adipose
42	chr14:105334600-105338600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:105334800-105337000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:105334800-105337000	Weak transcription	Liver	Liver
45	chr14:105334800-105338400	Strong transcription	Fetal Stomach	stomach
46	chr14:105334800-105338800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:105334800-105339000	Strong transcription	Fetal Intestine Small	intestine
48	chr14:105335000-105337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:105335000-105338400	Strong transcription	Fetal Brain Female	brain
50	chr14:105335400-105338000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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