Variant report

Variant	esv1835870
Chromosome Location	chr14:105696174-105707176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105698660-105698810	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr14:105698735-105698767	GM19239	blood:	n/a	n/a
3	FOXA2	chr14:105697139-105697625	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105706872..105708771-chr14:105714517..105716369,2	MCF-7	breast:
2	chr14:105706521..105709177-chr14:105712711..105714374,2	MCF-7	breast:

Variant related genes	Relation type
BRF1	TF binding region
ENSG00000185024	chromatin interactions
ENSG00000184887	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587690136	chr14:105696183-105696184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587753654	chr14:105696188-105696189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587626529	chr14:105696191-105696192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56220377	chr14:105696204-105696205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59254427	chr14:105696205-105696206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587683556	chr14:105696206-105696207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79173104	chr14:105696209-105696210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79120226	chr14:105696261-105696262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75981746	chr14:105696266-105696267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587762123	chr14:105696289-105696290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587640218	chr14:105696293-105696294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78061484	chr14:105696300-105696301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587713724	chr14:105696308-105696309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587751181	chr14:105696312-105696313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587647619	chr14:105696361-105696362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67652294	chr14:105696511-105696512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587731739	chr14:105696715-105696716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71423831	chr14:105696810-105696811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10146406	chr14:105696878-105696879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139840643	chr14:105697184-105697185	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs587627611	chr14:105697429-105697430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587684643	chr14:105697633-105697634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149408665	chr14:105697939-105697940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113179356	chr14:105697995-105697996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113293975	chr14:105698049-105698050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376216242	chr14:105698449-105698450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61996217	chr14:105698544-105698545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370137592	chr14:105698551-105698552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374479233	chr14:105698653-105698654	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377763577	chr14:105698765-105698766	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371228664	chr14:105698857-105698858	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374371201	chr14:105699061-105699062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144826190	chr14:105699979-105699980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190683432	chr14:105703160-105703161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201589357	chr14:105704466-105704467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148593819	chr14:105705078-105705079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144192896	chr14:105705180-105705181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146558624	chr14:105705236-105705237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140074590	chr14:105705282-105705283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143643748	chr14:105705486-105705487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146819107	chr14:105705588-105705589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112968661	chr14:105705996-105705997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150355590	chr14:105706098-105706099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145070296	chr14:105706200-105706201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149122729	chr14:105706302-105706303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145765327	chr14:105706404-105706405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138602763	chr14:105706506-105706507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141137809	chr14:105706608-105706609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146948723	chr14:105706703-105706704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587746234	chr14:105706744-105706745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	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
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
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
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:105671400-105697000	Weak transcription	Small Intestine	intestine
4	chr14:105672400-105713200	Weak transcription	Osteobl	bone
5	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
6	chr14:105674000-105698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
9	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
10	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
11	chr14:105681400-105714200	Weak transcription	HSMM	muscle
12	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:105687600-105701000	Weak transcription	Right Atrium	heart
16	chr14:105688400-105712000	Weak transcription	HepG2	liver
17	chr14:105688800-105713800	Weak transcription	NH-A	brain
18	chr14:105689800-105707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:105689800-105707200	Weak transcription	Right Ventricle	heart
20	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
22	chr14:105690200-105713800	Weak transcription	NHEK	skin
23	chr14:105690400-105696400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:105690400-105721400	Weak transcription	K562	blood
26	chr14:105691000-105707200	Weak transcription	Aorta	Aorta
27	chr14:105691600-105714000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:105692000-105707600	Weak transcription	A549	lung
29	chr14:105693000-105707400	Weak transcription	Colonic Mucosa	Colon
30	chr14:105693000-105710200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:105693000-105713600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:105693200-105698600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:105693200-105707200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:105693200-105707200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:105693200-105707200	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:105693200-105707200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:105693200-105707200	Weak transcription	Gastric	stomach
38	chr14:105693200-105707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:105693200-105707400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:105693200-105707400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:105693200-105707400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:105693200-105708000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:105693200-105708200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:105693200-105713400	Weak transcription	GM12878-XiMat	blood
45	chr14:105693200-105713400	Weak transcription	Hela-S3	cervix
46	chr14:105693200-105713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:105693200-105714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:105693400-105696800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:105693400-105698200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:105693400-105707200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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