Variant report

Variant	esv1831100
Chromosome Location	chr14:71132235-71139550
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71129537..71132550-chr14:71157568..71160951,3	MCF-7	breast:
2	chr14:71107436..71111203-chr14:71136387..71139039,3	MCF-7	breast:
3	chr14:71136609..71138138-chr14:71155904..71158810,2	MCF-7	breast:
4	chr14:71135889..71138012-chr14:71140606..71143262,2	K562	blood:
5	chr14:71105533..71111408-chr14:71129587..71135247,9	MCF-7	breast:
6	chr14:71132610..71134964-chr14:71136906..71139013,2	MCF-7	breast:
7	chr14:71130975..71133007-chr14:71267977..71270888,2	MCF-7	breast:
8	chr14:71132827..71135159-chr14:71171125..71172879,2	MCF-7	breast:
9	chr14:71132335..71134677-chr14:71163007..71165293,2	MCF-7	breast:
10	chr14:71108135..71108823-chr14:71132266..71132904,2	MCF-7	breast:
11	chr14:71136925..71138965-chr14:71144431..71146081,2	MCF-7	breast:
12	chr14:71132270..71133949-chr14:71136536..71138156,2	MCF-7	breast:
13	chr14:71131310..71133408-chr14:71170654..71173445,2	MCF-7	breast:
14	chr14:71130492..71133053-chr14:71173924..71176078,3	MCF-7	breast:
15	chr14:71132212..71134545-chr14:71176290..71178585,2	MCF-7	breast:
16	chr14:71132270..71133949-chr14:71136536..71138156,2	MCF-7	breast:
17	chr14:71132408..71133909-chr14:71162609..71164533,2	MCF-7	breast:
18	chr14:71132610..71134964-chr14:71136906..71139013,2	MCF-7	breast:
19	chr14:71131493..71133851-chr14:71142180..71144141,3	MCF-7	breast:
20	chr14:71131102..71134046-chr14:71180696..71183672,2	MCF-7	breast:
21	chr14:71136522..71138856-chr14:71141458..71144238,3	MCF-7	breast:
22	chr14:71131895..71134522-chr14:71177148..71179361,2	MCF-7	breast:
23	chr14:71139454..71141486-chr4:39457284..39460064,2	MCF-7	breast:
24	chr14:71109389..71111016-chr14:71129736..71132457,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133985	chromatin interactions
ENSG00000163682	chromatin interactions
ENSG00000259115	chromatin interactions
ENSG00000245466	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17108348	chr14:71132235-71132236	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs566393229	chr14:71132253-71132254	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs534137688	chr14:71132261-71132262	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375885490	chr14:71132266-71132267	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559002622	chr14:71132309-71132310	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369099496	chr14:71132322-71132323	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540164546	chr14:71132343-71132344	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs189199767	chr14:71132351-71132352	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537977139	chr14:71132378-71132379	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75120800	chr14:71132422-71132423	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574973850	chr14:71132536-71132537	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs61980475	chr14:71132621-71132622	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116893219	chr14:71132653-71132654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181893624	chr14:71132723-71132724	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs142831518	chr14:71132725-71132726	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs1205233	chr14:71132759-71132760	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs546980631	chr14:71132782-71132783	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs531411581	chr14:71132823-71132824	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs549643176	chr14:71132840-71132841	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187655881	chr14:71132869-71132870	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556224506	chr14:71132878-71132879	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs147400605	chr14:71132914-71132915	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376095205	chr14:71132916-71132917	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs12897129	chr14:71132957-71132958	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs79171313	chr14:71132958-71132959	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs539760076	chr14:71132999-71133000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552577666	chr14:71133012-71133013	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114732804	chr14:71133026-71133027	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538327497	chr14:71133079-71133080	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556427880	chr14:71133164-71133165	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs75823680	chr14:71133222-71133223	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs547921031	chr14:71133315-71133316	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs190387083	chr14:71133342-71133343	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs572374517	chr14:71133400-71133401	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567070189	chr14:71133442-71133443	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200843922	chr14:71133492-71133493	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs546114819	chr14:71133518-71133519	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs79666353	chr14:71133552-71133553	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371609297	chr14:71133571-71133572	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs76157682	chr14:71133633-71133634	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs575997164	chr14:71133637-71133638	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543502329	chr14:71133639-71133640	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553459447	chr14:71133651-71133652	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs116232055	chr14:71133686-71133687	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571687833	chr14:71133693-71133694	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs561584428	chr14:71133695-71133696	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs180713141	chr14:71133700-71133701	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111333371	chr14:71133708-71133709	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs73287931	chr14:71133762-71133763	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559610321	chr14:71133764-71133765	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Epilepsy	20502679	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71112800-71140000	Weak transcription	Fetal Brain Male	brain
2	chr14:71115200-71137000	Weak transcription	Fetal Stomach	stomach
3	chr14:71121200-71133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:71122800-71133200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:71122800-71136600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:71122800-71138000	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:71127400-71134800	Enhancers	Placenta	Placenta
8	chr14:71127600-71133200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:71127600-71133600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:71127600-71134400	Enhancers	Spleen	Spleen
11	chr14:71127800-71134400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:71128000-71133000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:71128400-71140800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:71128600-71134000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:71128600-71134400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:71128800-71133200	Enhancers	Esophagus	oesophagus
17	chr14:71128800-71138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:71129000-71132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:71129000-71137000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:71129200-71134400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:71129200-71134600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:71129800-71132600	Enhancers	Liver	Liver
23	chr14:71129800-71134400	Enhancers	NHLF	lung
24	chr14:71129800-71134600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:71130000-71133200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:71130200-71133400	Enhancers	Primary B cells from cord blood	blood
27	chr14:71130200-71133600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:71130200-71136600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:71130600-71133000	Enhancers	Lung	lung
30	chr14:71130600-71133200	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:71130800-71133200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:71130800-71133200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:71130800-71133200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:71130800-71133200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:71130800-71133200	Enhancers	Pancreas	Pancrea
36	chr14:71130800-71134600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:71131000-71132600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:71131000-71132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:71131000-71133000	Weak transcription	NH-A	brain
40	chr14:71131000-71133200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:71131000-71134000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:71131000-71134400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:71131200-71132600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:71131200-71132600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:71131200-71132600	Weak transcription	Osteobl	bone
46	chr14:71131200-71132800	Weak transcription	NHDF-Ad	bronchial
47	chr14:71131200-71134200	Weak transcription	Fetal Brain Female	brain
48	chr14:71131200-71139600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:71131400-71132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71131400-71133000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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