Variant report

Variant	esv3340751
Chromosome Location	chr7:16435327-16441325
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
2	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
3	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
4	chr7:16435726..16438390-chr7:16620305..16622722,2	K562	blood:
5	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
6	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
7	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
8	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:
9	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
10	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
11	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
12	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
13	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
14	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
15	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 552 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550394161	chr7:16435381-16435382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547944096	chr7:16435399-16435400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13235599	chr7:16435433-16435434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147500748	chr7:16435439-16435440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140202213	chr7:16435488-16435489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567737105	chr7:16435496-16435497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568961967	chr7:16435550-16435551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189971346	chr7:16435575-16435576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144049569	chr7:16435578-16435579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181102330	chr7:16435590-16435591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10224376	chr7:16435601-16435602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185937713	chr7:16435610-16435611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541932810	chr7:16435646-16435647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563663766	chr7:16435704-16435705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373012259	chr7:16435738-16435739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575669207	chr7:16435749-16435750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115604977	chr7:16435759-16435760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188792662	chr7:16435772-16435773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569584756	chr7:16435777-16435778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181894095	chr7:16435797-16435798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371417389	chr7:16435799-16435800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528801956	chr7:16435814-16435815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187672642	chr7:16435864-16435865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562284064	chr7:16435883-16435884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10254133	chr7:16435939-16435940	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191939830	chr7:16435968-16435969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182994385	chr7:16436093-16436094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369455070	chr7:16436098-16436099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150731299	chr7:16436120-16436121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537140044	chr7:16436130-16436131	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2178600	chr7:16436138-16436139	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570067369	chr7:16436164-16436165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535989626	chr7:16436218-16436219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534625430	chr7:16436220-16436221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76527279	chr7:16436229-16436230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573420245	chr7:16436230-16436231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567995090	chr7:16436241-16436242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535966307	chr7:16436246-16436247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535316129	chr7:16436292-16436293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185868189	chr7:16436311-16436312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117767005	chr7:16436313-16436314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546234605	chr7:16436319-16436320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545239411	chr7:16436333-16436334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114727776	chr7:16436377-16436378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573240761	chr7:16436384-16436385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs17169450	chr7:16436409-16436410	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562397657	chr7:16436417-16436418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529610133	chr7:16436425-16436426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10257559	chr7:16436427-16436428	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10243957	chr7:16436434-16436435	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16417600-16436800	Weak transcription	Right Ventricle	heart
2	chr7:16432600-16439600	Weak transcription	Ovary	ovary
3	chr7:16432800-16436800	Weak transcription	Pancreas	Pancrea
4	chr7:16434000-16435800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
6	chr7:16435200-16442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:16435600-16436400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:16435600-16437200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:16435800-16436600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:16435800-16439600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:16435800-16440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:16435800-16444400	ZNF genes & repeats	K562	blood
13	chr7:16436000-16440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr7:16436200-16440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:16436200-16440400	ZNF genes & repeats	Fetal Lung	lung
16	chr7:16436200-16443600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:16436400-16440000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr7:16436400-16440000	ZNF genes & repeats	Brain Angular Gyrus	brain
19	chr7:16436400-16440200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:16436400-16440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr7:16436400-16440400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr7:16436400-16440400	ZNF genes & repeats	Fetal Brain Male	brain
23	chr7:16436400-16440400	ZNF genes & repeats	Fetal Heart	heart
24	chr7:16436400-16440400	ZNF genes & repeats	Fetal Kidney	kidney
25	chr7:16436400-16440600	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr7:16436600-16439600	ZNF genes & repeats	Gastric	stomach
27	chr7:16436600-16440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr7:16436600-16440000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr7:16436600-16440000	ZNF genes & repeats	Dnd41	blood
30	chr7:16436600-16440200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr7:16436600-16440400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:16436600-16440400	ZNF genes & repeats	Esophagus	oesophagus
33	chr7:16436600-16440400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr7:16436800-16437000	Enhancers	Right Ventricle	heart
35	chr7:16436800-16437000	ZNF genes & repeats	Spleen	Spleen
36	chr7:16436800-16437600	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr7:16436800-16438200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr7:16436800-16438600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr7:16436800-16440000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:16436800-16440200	ZNF genes & repeats	Pancreas	Pancrea
41	chr7:16436800-16440200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr7:16436800-16440400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:16436800-16440600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:16437000-16437600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:16437000-16439200	Weak transcription	Spleen	Spleen
46	chr7:16437000-16440400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:16437000-16442600	Weak transcription	Right Ventricle	heart
48	chr7:16437200-16437600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:16437200-16440400	ZNF genes & repeats	HSMM	muscle
50	chr7:16437400-16437600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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