Variant report

Variant	esv2543794
Chromosome Location	chr14:104136357-104138244
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	chr14:104136954-104136970	GM13976	blood:	n/a	n/a
2	CTCF	chr14:104136886-104136934	GM13976	blood:	n/a	n/a
3	POLR2A	chr14:104137088-104137254	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:104138157-104138201	K562	blood:	n/a	n/a
5	POLR2A	chr14:104137532-104137739	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104136832..104139230-chr14:104141044..104143679,3	MCF-7	breast:
2	chr14:104135858..104138400-chr14:104181614..104183582,2	K562	blood:
3	chr14:104134068..104136390-chr14:104140972..104143359,2	MCF-7	breast:

Variant related genes	Relation type
KLC1	TF binding region
ENSG00000126215	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000100711	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77849213	chr14:104136394-104136395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560183278	chr14:104136396-104136397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546112158	chr14:104136399-104136400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187427496	chr14:104136416-104136417	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372260530	chr14:104136445-104136446	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562724249	chr14:104136467-104136468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201642891	chr14:104136469-104136470	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11333716	chr14:104136470-104136471	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs398026472	chr14:104136471-104136472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531578661	chr14:104136472-104136473	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377594364	chr14:104136497-104136498	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376553610	chr14:104136572-104136573	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548069763	chr14:104136581-104136582	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561466928	chr14:104136587-104136588	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12590968	chr14:104136633-104136634	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs373450334	chr14:104136637-104136638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113502597	chr14:104136639-104136640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76786982	chr14:104136644-104136645	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376871131	chr14:104136649-104136650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79809574	chr14:104136668-104136669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569205098	chr14:104136679-104136680	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144119731	chr14:104136720-104136721	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372534547	chr14:104136743-104136744	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146481975	chr14:104136791-104136792	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574505971	chr14:104136830-104136831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533673725	chr14:104136831-104136832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553870677	chr14:104136835-104136836	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs576909542	chr14:104136839-104136840	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs531382519	chr14:104136863-104136864	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7161288	chr14:104136871-104136872	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs545809852	chr14:104136904-104136905	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs562809191	chr14:104136934-104136935	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs372266148	chr14:104136951-104136952	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs377597171	chr14:104136954-104136955	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs576238466	chr14:104136966-104136967	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs377086989	chr14:104136967-104136968	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs149066850	chr14:104136970-104136971	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs370994418	chr14:104137014-104137015	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs79576177	chr14:104137032-104137033	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs114454163	chr14:104137077-104137078	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs151147557	chr14:104137117-104137118	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs55647815	chr14:104137204-104137205	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs532419300	chr14:104137247-104137248	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs191485805	chr14:104137252-104137253	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs144260527	chr14:104137266-104137267	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs569568371	chr14:104137287-104137288	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs538137577	chr14:104137293-104137294	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548838533	chr14:104137294-104137295	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs568016367	chr14:104137330-104137331	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs568578723	chr14:104137346-104137347	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:104117800-104157000	Strong transcription	Dnd41	blood
3	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104119200-104145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:104119200-104155600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:104119400-104145000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:104119400-104147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:104119400-104157000	Strong transcription	Fetal Thymus	thymus
11	chr14:104119400-104161800	Strong transcription	Fetal Intestine Small	intestine
12	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:104120000-104145600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:104120200-104149800	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:104120200-104155000	Strong transcription	Fetal Brain Female	brain
18	chr14:104120200-104161400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:104120200-104161800	Strong transcription	Fetal Intestine Large	intestine
20	chr14:104120400-104150000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:104120400-104157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:104120400-104157000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:104120400-104161200	Strong transcription	Fetal Stomach	stomach
24	chr14:104120600-104143200	Strong transcription	Left Ventricle	heart
25	chr14:104120600-104155000	Strong transcription	Brain Germinal Matrix	brain
26	chr14:104120800-104157200	Strong transcription	Thymus	Thymus
27	chr14:104121000-104154200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:104121000-104154800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:104121000-104162000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:104122800-104153000	Strong transcription	Liver	Liver
31	chr14:104123400-104144600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:104123400-104155200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:104124600-104147800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:104125200-104155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:104126400-104140800	Weak transcription	Stomach Mucosa	stomach
38	chr14:104128000-104138400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:104129200-104138200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:104129200-104142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:104130200-104136400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:104130200-104136600	Weak transcription	Pancreas	Pancrea
43	chr14:104130200-104143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:104130400-104142400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:104130400-104145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:104130400-104147800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:104130400-104153000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:104130600-104136400	Weak transcription	Psoas Muscle	Psoas
49	chr14:104130600-104145200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:104130600-104149800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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