Variant report

Variant	esv3424025
Chromosome Location	chr14:68553899-68555797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68554509..68557334-chr14:69260770..69262937,2	MCF-7	breast:
2	chr14:68555228..68557396-chr14:69260627..69263402,2	MCF-7	breast:
3	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
4	chr14:68410049..68412875-chr14:68551981..68554163,2	MCF-7	breast:
5	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
6	chr14:68554904..68556745-chr14:68657326..68660228,3	MCF-7	breast:
7	chr14:68548399..68550785-chr14:68554801..68556437,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34030120	chr14:68554068-68554069	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187602299	chr14:68554071-68554072	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115321333	chr14:68554100-68554101	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138167588	chr14:68554188-68554189	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149582389	chr14:68554211-68554212	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563540300	chr14:68554223-68554224	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530846543	chr14:68554283-68554284	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549174643	chr14:68554317-68554318	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537699562	chr14:68554330-68554331	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534797629	chr14:68554343-68554344	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192523718	chr14:68554396-68554397	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571662185	chr14:68554410-68554411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538991570	chr14:68554423-68554424	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556960505	chr14:68554438-68554439	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575511097	chr14:68554444-68554445	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536583174	chr14:68554471-68554472	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554734015	chr14:68554480-68554481	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375872384	chr14:68554546-68554547	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34164772	chr14:68554547-68554548	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554468089	chr14:68554561-68554562	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371691305	chr14:68554579-68554580	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11848495	chr14:68554589-68554590	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573432304	chr14:68554630-68554631	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184100265	chr14:68554634-68554635	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28640020	chr14:68554656-68554657	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189436036	chr14:68554681-68554682	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs192476020	chr14:68554704-68554705	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184831729	chr14:68554710-68554711	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559357577	chr14:68554731-68554732	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74773190	chr14:68554769-68554770	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114843266	chr14:68554956-68554957	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376405420	chr14:68554957-68554958	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530807052	chr14:68555049-68555050	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549336250	chr14:68555053-68555054	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138930169	chr14:68555066-68555067	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566149914	chr14:68555072-68555073	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142154972	chr14:68555074-68555075	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73286213	chr14:68555080-68555081	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571689437	chr14:68555113-68555114	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538784783	chr14:68555141-68555142	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146380880	chr14:68555162-68555163	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148585497	chr14:68555163-68555164	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568383132	chr14:68555177-68555178	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539831891	chr14:68555262-68555263	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150938541	chr14:68555306-68555307	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367594299	chr14:68555307-68555308	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554794980	chr14:68555324-68555325	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188795578	chr14:68555328-68555329	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74246597	chr14:68555329-68555330	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145869631	chr14:68555342-68555343	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68542200-68555000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:68542800-68555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68544000-68555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68545800-68555800	Weak transcription	Small Intestine	intestine
5	chr14:68546200-68554800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:68547200-68567400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:68547400-68555000	Weak transcription	Psoas Muscle	Psoas
8	chr14:68547600-68554000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:68549200-68554000	Enhancers	Fetal Lung	lung
10	chr14:68549200-68555400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:68549600-68555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:68550000-68554800	Weak transcription	NHEK	skin
13	chr14:68550200-68555000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:68551400-68555000	Weak transcription	Fetal Kidney	kidney
15	chr14:68551400-68555200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:68552600-68554800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:68552800-68554000	Weak transcription	A549	lung
18	chr14:68552800-68554200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:68552800-68555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:68552800-68555400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:68553000-68554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:68553000-68555200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:68553000-68555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:68553200-68554000	Weak transcription	Lung	lung
25	chr14:68553200-68555200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:68553200-68555200	Weak transcription	HepG2	liver
27	chr14:68553200-68555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:68553200-68555600	Weak transcription	Stomach Mucosa	stomach
29	chr14:68553200-68556000	Weak transcription	Fetal Intestine Small	intestine
30	chr14:68553400-68554000	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:68553400-68555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:68553400-68555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:68553400-68555400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:68554000-68554200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:68554000-68554400	Enhancers	Colon Smooth Muscle	Colon
36	chr14:68554000-68554400	Flanking Active TSS	Fetal Lung	lung
37	chr14:68554000-68554400	Genic enhancers	A549	lung
38	chr14:68554200-68554600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:68554200-68554600	Enhancers	Fetal Muscle Leg	muscle
40	chr14:68554200-68554800	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr14:68554200-68555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:68554200-68555400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:68554400-68554800	Weak transcription	A549	lung
44	chr14:68554400-68555000	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:68554400-68555000	Active TSS	Fetal Lung	lung
46	chr14:68554600-68554800	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:68554600-68555000	Weak transcription	Adipose Nuclei	Adipose
48	chr14:68554600-68556400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:68554800-68555000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:68554800-68555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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