Variant report

Variant	nsv970512
Chromosome Location	chr7:65196422-65200224
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56101662..56102254-chr7:65196450..65196951,2	NB4	blood:
2	chr7:65196532..65198137-chr7:65200212..65201729,2	K562	blood:
3	chr7:65196532..65198137-chr7:65200212..65201729,2	K562	blood:
4	chr7:65189487..65191931-chr7:65193977..65196871,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-5	chr7:65199235-65199344	NONHSAT121098
2	lnc-GUSB-5	chr7:65196535-65198801	NONHSAT121102
3	lnc-GUSB-5	chr7:65196535-65197024	NONHSAT121098

No data

Variant related genes	Relation type
ENSG00000146733	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550546355	chr7:65196434-65196435	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs114306354	chr7:65196450-65196451	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530400154	chr7:65196683-65196684	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs144939749	chr7:65196688-65196689	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs547329661	chr7:65196702-65196703	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs6460257	chr7:65196780-65196781	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
7	rs564298063	chr7:65196827-65196828	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs539247902	chr7:65196833-65196834	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs192565569	chr7:65196892-65196893	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs551174655	chr7:65196916-65196917	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs571250668	chr7:65196919-65196920	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs537985667	chr7:65196923-65196924	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs116755203	chr7:65196933-65196934	Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs77063731	chr7:65197013-65197014	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536114004	chr7:65197057-65197058	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs552852699	chr7:65197068-65197069	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs58440064	chr7:65197101-65197102	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142556617	chr7:65197121-65197122	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs373829255	chr7:65197122-65197123	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs545178677	chr7:65197123-65197124	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532322133	chr7:65197130-65197131	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs57307060	chr7:65197132-65197133	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs183098406	chr7:65197162-65197163	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575276387	chr7:65197239-65197240	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113185309	chr7:65197247-65197248	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs376735215	chr7:65197250-65197251	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs371144048	chr7:65197281-65197282	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs187394873	chr7:65197340-65197341	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs529732861	chr7:65197353-65197354	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs540879658	chr7:65197365-65197366	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs193087953	chr7:65197416-65197417	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536521087	chr7:65197523-65197524	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs35770982	chr7:65197548-65197549	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184909704	chr7:65197558-65197559	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs552717973	chr7:65197632-65197633	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs116549053	chr7:65197635-65197636	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs73136171	chr7:65197692-65197693	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs371572364	chr7:65197737-65197738	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548416845	chr7:65197741-65197742	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs188175688	chr7:65197819-65197820	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533941567	chr7:65197824-65197825	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553790085	chr7:65197830-65197831	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs71049145	chr7:65197855-65197856	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs569733833	chr7:65197862-65197863	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs538582851	chr7:65197891-65197892	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs367686566	chr7:65197948-65197949	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558700129	chr7:65197985-65197986	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs575362581	chr7:65197986-65197987	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs565439049	chr7:65198046-65198047	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532884304	chr7:65198049-65198050	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65182600-65215200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:65183800-65196600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:65186600-65196600	Weak transcription	Ovary	ovary
4	chr7:65187600-65196600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:65187600-65205400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:65187600-65215000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:65188600-65215000	Weak transcription	HSMM	muscle
8	chr7:65189400-65203600	Weak transcription	Brain Substantia Nigra	brain
9	chr7:65189600-65196600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:65189600-65210600	Weak transcription	A549	lung
11	chr7:65189600-65210800	Weak transcription	NHLF	lung
12	chr7:65190200-65196600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:65190200-65205200	Weak transcription	Aorta	Aorta
14	chr7:65190800-65214600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:65191800-65196600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:65191800-65215000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:65192000-65196600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:65192200-65214200	Weak transcription	Liver	Liver
19	chr7:65192200-65214200	Weak transcription	Dnd41	blood
20	chr7:65194400-65214200	Weak transcription	GM12878-XiMat	blood
21	chr7:65195200-65215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:65195800-65197200	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:65195800-65197400	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:65196000-65197400	Active TSS	Colon Smooth Muscle	Colon
25	chr7:65196000-65206400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:65196200-65196600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:65196200-65196600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:65196200-65196600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:65196200-65196600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:65196200-65196600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:65196200-65196600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:65196200-65196600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:65196200-65196600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:65196200-65196800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr7:65196200-65196800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:65196200-65196800	Enhancers	Small Intestine	intestine
37	chr7:65196200-65197000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:65196200-65197000	Flanking Active TSS	HUVEC	blood vessel
39	chr7:65196200-65197000	Flanking Active TSS	NHEK	skin
40	chr7:65196200-65197200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:65196200-65197200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:65196200-65201800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:65196400-65196600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:65196400-65196600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:65196400-65196600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:65196400-65196600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:65196400-65196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:65196400-65196600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:65196400-65196600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:65196400-65196600	Enhancers	Primary T helper cells fromperipheralblood	blood

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