Variant report

Variant	esv3440324
Chromosome Location	chr14:104642824-104645372
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104627021..104629659-chr14:104644533..104646486,2	MCF-7	breast:
2	chr14:104642506..104644837-chr14:105146981..105148729,2	MCF-7	breast:
3	chr14:104636638..104639934-chr14:104644485..104647895,3	MCF-7	breast:
4	chr14:104641001..104643795-chr14:104659198..104661496,2	MCF-7	breast:
5	chr14:104643343..104645021-chr14:104648909..104651142,2	K562	blood:
6	chr14:104644034..104647829-chr14:104648059..104652639,5	MCF-7	breast:
7	chr14:104644824..104647219-chr14:104651116..104653195,2	K562	blood:
8	chr14:104633441..104636247-chr14:104642417..104644360,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256050	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200984423	chr14:104642828-104642829	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74090224	chr14:104642857-104642858	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs367624454	chr14:104642866-104642867	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370601201	chr14:104642897-104642898	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200373476	chr14:104642898-104642899	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576339078	chr14:104642922-104642923	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199830144	chr14:104642928-104642929	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568901753	chr14:104642930-104642931	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374714505	chr14:104642931-104642932	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201356632	chr14:104642952-104642953	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554693329	chr14:104642966-104642967	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200718356	chr14:104642981-104642982	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200989202	chr14:104643003-104643004	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536806165	chr14:104643008-104643009	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs137995213	chr14:104643029-104643030	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573167604	chr14:104643046-104643047	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375452043	chr14:104643075-104643076	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538974492	chr14:104643105-104643106	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558511310	chr14:104643123-104643124	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368542449	chr14:104643130-104643131	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575275674	chr14:104643175-104643176	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544376085	chr14:104643201-104643202	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113754530	chr14:104643204-104643205	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143446561	chr14:104643205-104643206	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191291452	chr14:104643208-104643209	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374354635	chr14:104643225-104643226	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11852063	chr14:104643258-104643259	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143868572	chr14:104643285-104643286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562461621	chr14:104643295-104643296	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531384616	chr14:104643334-104643335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547879840	chr14:104643379-104643380	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201320098	chr14:104643389-104643390	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369615329	chr14:104643408-104643409	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2487303	chr14:104643409-104643410	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377744488	chr14:104643416-104643417	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2487302	chr14:104643421-104643422	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113089140	chr14:104643424-104643425	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182750048	chr14:104643431-104643432	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377460771	chr14:104643432-104643433	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558868521	chr14:104643433-104643434	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575848831	chr14:104643444-104643445	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562316909	chr14:104643448-104643449	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554679807	chr14:104643453-104643454	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199511148	chr14:104643459-104643460	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73360251	chr14:104643460-104643461	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200100976	chr14:104643473-104643474	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200775336	chr14:104643479-104643480	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374000610	chr14:104643501-104643502	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377110995	chr14:104643528-104643529	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370850949	chr14:104643534-104643535	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104616200-104645000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:104637200-104646400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104637400-104647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:104637600-104647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:104637800-104645200	Strong transcription	Fetal Brain Female	brain
6	chr14:104637800-104647400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:104638000-104650800	Weak transcription	Right Atrium	heart
8	chr14:104638200-104644400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:104638200-104647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:104638600-104644400	Strong transcription	Fetal Stomach	stomach
11	chr14:104638600-104645000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:104638800-104643200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr14:104638800-104644600	Weak transcription	Gastric	stomach
14	chr14:104638800-104646400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:104639000-104643000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:104639000-104643000	Weak transcription	Placenta	Placenta
17	chr14:104639000-104643800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:104639000-104644200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:104639000-104647200	Weak transcription	Ovary	ovary
20	chr14:104639000-104650600	Weak transcription	Esophagus	oesophagus
21	chr14:104639400-104643800	Strong transcription	Spleen	Spleen
22	chr14:104639400-104646600	Strong transcription	Fetal Intestine Small	intestine
23	chr14:104639400-104648000	Strong transcription	Brain Germinal Matrix	brain
24	chr14:104639600-104643000	Strong transcription	Right Ventricle	heart
25	chr14:104639600-104643200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:104639600-104644600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr14:104639800-104643000	Strong transcription	Lung	lung
28	chr14:104640200-104643400	Strong transcription	Fetal Intestine Large	intestine
29	chr14:104640400-104643200	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:104640600-104643400	Weak transcription	Colonic Mucosa	Colon
31	chr14:104640800-104643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:104641400-104647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:104641600-104644200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr14:104641800-104648600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:104642000-104643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:104642000-104647000	Weak transcription	Fetal Lung	lung
37	chr14:104642000-104648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:104642000-104652400	Weak transcription	Pancreas	Pancrea
39	chr14:104642200-104645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:104642200-104645800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:104642400-104644200	Weak transcription	Adipose Nuclei	Adipose
42	chr14:104643000-104643200	Genic enhancers	Right Ventricle	heart
43	chr14:104643000-104647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:104643000-104650000	Weak transcription	Lung	lung
45	chr14:104643200-104643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:104643200-104644000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:104643200-104644600	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:104643200-104646000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:104643200-104648000	Weak transcription	Right Ventricle	heart
50	chr14:104643400-104643600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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