Variant report

Variant	esv3403859
Chromosome Location	chr7:63373387-63373817
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	MXI1	chr7:63373779-63373784	GM12878	blood:	n/a	n/a
2	RFX5	chr7:63372714-63373391	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63368541..63372381-chr7:63373211..63376863,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF727-6	chr7:63373596-63374159	NONHSAT120952

Variant related genes	Relation type
NMD3P1	TF binding region
ENSG00000226342	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56378232	chr7:63373403-63373404	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74587882	chr7:63373417-63373418	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572493151	chr7:63373657-63373658	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs139103189	chr7:63373708-63373709	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs368079421	chr7:63373722-63373723	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs531276674	chr7:63373736-63373737	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs538640816	chr7:63373775-63373776	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs76901355	chr7:63373787-63373788	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs79744990	chr7:63373793-63373794	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63361800-63379000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:63362200-63376200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:63362400-63384400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:63363200-63374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:63372000-63373400	ZNF genes & repeats	Dnd41	blood
6	chr7:63372000-63375600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:63372600-63373600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:63372600-63374800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr7:63372600-63375200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:63372600-63378400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr7:63373000-63374200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:63373000-63374400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:63373000-63374600	Weak transcription	NH-A	brain
14	chr7:63373000-63375600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:63373000-63376000	Weak transcription	K562	blood
16	chr7:63373000-63385400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:63373000-63385400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:63373000-63385400	Weak transcription	Ovary	ovary
19	chr7:63373000-63385600	Weak transcription	Gastric	stomach
20	chr7:63373200-63373800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:63373200-63374000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:63373200-63374400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:63373200-63374400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:63373200-63374400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:63373200-63374400	Weak transcription	HUVEC	blood vessel
26	chr7:63373200-63374600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:63373200-63374600	Weak transcription	Aorta	Aorta
28	chr7:63373200-63380200	Weak transcription	Pancreas	Pancrea
29	chr7:63373400-63374200	Weak transcription	Dnd41	blood

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