Variant report

Variant	esv3440522
Chromosome Location	chr7:16438977-16441775
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
2	chr7:16441360..16443090-chr7:16448119..16450606,2	K562	blood:
3	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
4	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
5	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
6	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
7	chr7:16441426..16443801-chr7:16458658..16460792,2	K562	blood:
8	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
9	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
10	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114676524	chr7:16438996-16438997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545292322	chr7:16439005-16439006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538462904	chr7:16439007-16439008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560308455	chr7:16439018-16439019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572181011	chr7:16439022-16439023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542785228	chr7:16439038-16439039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200458393	chr7:16439041-16439042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201781412	chr7:16439042-16439043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561271385	chr7:16439054-16439055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116713513	chr7:16439066-16439067	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377026201	chr7:16439067-16439068	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564909032	chr7:16439076-16439077	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532681780	chr7:16439085-16439086	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189590719	chr7:16439088-16439089	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192440588	chr7:16439101-16439102	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75440699	chr7:16439109-16439110	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548756157	chr7:16439110-16439111	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183867230	chr7:16439117-16439118	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537892226	chr7:16439119-16439120	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34073023	chr7:16439132-16439133	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10641608	chr7:16439135-16439136	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556214539	chr7:16439154-16439155	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577674817	chr7:16439159-16439160	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76089557	chr7:16439165-16439166	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539430161	chr7:16439166-16439167	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535623364	chr7:16439188-16439189	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114482670	chr7:16439191-16439192	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542496887	chr7:16439210-16439211	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116407928	chr7:16439219-16439220	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576152010	chr7:16439226-16439227	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543477099	chr7:16439237-16439238	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139847056	chr7:16439254-16439255	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73071098	chr7:16439255-16439256	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547769302	chr7:16439259-16439260	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559838779	chr7:16439266-16439267	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530380375	chr7:16439288-16439289	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114492581	chr7:16439290-16439291	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140452434	chr7:16439294-16439295	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531447747	chr7:16439297-16439298	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188143360	chr7:16439317-16439318	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7778635	chr7:16439318-16439319	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181389425	chr7:16439320-16439321	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556262779	chr7:16439325-16439326	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538683269	chr7:16439326-16439327	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576083501	chr7:16439332-16439333	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553719114	chr7:16439336-16439337	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186532361	chr7:16439342-16439343	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201435833	chr7:16439352-16439353	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7801162	chr7:16439364-16439365	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554483888	chr7:16439384-16439385	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16432600-16439600	Weak transcription	Ovary	ovary
2	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
3	chr7:16435200-16442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16435800-16439600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:16435800-16440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:16435800-16444400	ZNF genes & repeats	K562	blood
7	chr7:16436000-16440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:16436200-16440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr7:16436200-16440400	ZNF genes & repeats	Fetal Lung	lung
10	chr7:16436200-16443600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr7:16436400-16440000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr7:16436400-16440000	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr7:16436400-16440200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:16436400-16440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr7:16436400-16440400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr7:16436400-16440400	ZNF genes & repeats	Fetal Brain Male	brain
17	chr7:16436400-16440400	ZNF genes & repeats	Fetal Heart	heart
18	chr7:16436400-16440400	ZNF genes & repeats	Fetal Kidney	kidney
19	chr7:16436400-16440600	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr7:16436600-16439600	ZNF genes & repeats	Gastric	stomach
21	chr7:16436600-16440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr7:16436600-16440000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr7:16436600-16440000	ZNF genes & repeats	Dnd41	blood
24	chr7:16436600-16440200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr7:16436600-16440400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:16436600-16440400	ZNF genes & repeats	Esophagus	oesophagus
27	chr7:16436600-16440400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr7:16436800-16440000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:16436800-16440200	ZNF genes & repeats	Pancreas	Pancrea
30	chr7:16436800-16440200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr7:16436800-16440400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:16436800-16440600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:16437000-16439200	Weak transcription	Spleen	Spleen
34	chr7:16437000-16440400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:16437000-16442600	Weak transcription	Right Ventricle	heart
36	chr7:16437200-16440400	ZNF genes & repeats	HSMM	muscle
37	chr7:16437400-16440400	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr7:16437600-16439000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:16437600-16439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:16437600-16440000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr7:16438000-16439600	ZNF genes & repeats	Fetal Stomach	stomach
42	chr7:16438200-16439400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:16438200-16440000	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr7:16438200-16440400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
45	chr7:16438400-16440000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:16438800-16439800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:16438800-16440600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr7:16439000-16439400	ZNF genes & repeats	Lung	lung
49	chr7:16439000-16439600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr7:16439200-16439600	ZNF genes & repeats	Spleen	Spleen

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