Variant report

Variant	nsv967467
Chromosome Location	chr7:104850694-104859017
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104851087..104853973-chr7:104856176..104858967,3	K562	blood:
2	chr7:104855097..104857884-chr7:104863691..104866292,2	K562	blood:
3	chr7:104851087..104853973-chr7:104856176..104858967,3	K562	blood:
4	chr7:104845667..104848207-chr7:104850068..104852125,2	K562	blood:
5	chr7:104855613..104857301-chr7:104859223..104860789,2	K562	blood:
6	chr7:104842472..104844630-chr7:104851127..104854006,3	K562	blood:
7	chr7:104805022..104807965-chr7:104857264..104859222,2	MCF-7	breast:
8	chr7:104845823..104848635-chr7:104857389..104859177,2	MCF-7	breast:
9	chr7:104853847..104856619-chr7:104856817..104860250,3	MCF-7	breast:
10	chr7:104858335..104861372-chr7:104862250..104865906,3	MCF-7	breast:
11	chr7:104842758..104847197-chr7:104847496..104851366,4	MCF-7	breast:
12	chr7:104850289..104852047-chr7:104854189..104856772,3	MCF-7	breast:
13	chr7:104856384..104859738-chr7:104863691..104865775,3	K562	blood:
14	chr7:104853847..104856619-chr7:104856817..104860250,3	MCF-7	breast:
15	chr7:104857529..104859234-chr7:104868508..104871222,2	MCF-7	breast:
16	chr7:104857296..104859841-chr7:104860389..104862451,3	MCF-7	breast:
17	chr7:104651829..104654559-chr7:104857384..104858979,2	MCF-7	breast:
18	chr7:104850289..104852047-chr7:104854189..104856772,3	MCF-7	breast:
19	chr7:104851794..104856140-chr7:104862639..104865713,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135250	chromatin interactions
ENSG00000271482	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536035662	chr7:104850784-104850785	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs146901179	chr7:104850794-104850795	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75301811	chr7:104850860-104850861	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185253371	chr7:104850861-104850862	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190651673	chr7:104850896-104850897	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564909128	chr7:104850898-104850899	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75834379	chr7:104850958-104850959	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541549437	chr7:104850959-104850960	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561206021	chr7:104851006-104851007	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530367627	chr7:104851014-104851015	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569588702	chr7:104851028-104851029	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550206161	chr7:104851033-104851034	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113838378	chr7:104851065-104851066	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565124924	chr7:104851078-104851079	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571324968	chr7:104851086-104851087	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182941804	chr7:104851089-104851090	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568415639	chr7:104851090-104851091	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536192311	chr7:104851137-104851138	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs62484665	chr7:104851164-104851165	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571225580	chr7:104851212-104851213	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188597743	chr7:104851215-104851216	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547495726	chr7:104851280-104851281	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192345292	chr7:104851305-104851306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112376492	chr7:104851350-104851351	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555895403	chr7:104851434-104851435	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182864929	chr7:104851537-104851538	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538514166	chr7:104851559-104851560	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558414359	chr7:104851585-104851586	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572431937	chr7:104851619-104851620	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541064785	chr7:104851624-104851625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537364133	chr7:104851638-104851639	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144771874	chr7:104851675-104851676	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544032048	chr7:104851696-104851697	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73715446	chr7:104851704-104851705	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532870824	chr7:104851708-104851709	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546552063	chr7:104851725-104851726	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560064041	chr7:104851780-104851781	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527327204	chr7:104851799-104851800	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547065997	chr7:104851811-104851812	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148642331	chr7:104851826-104851827	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529727243	chr7:104851864-104851865	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187464526	chr7:104851892-104851893	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569551478	chr7:104851911-104851912	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115606151	chr7:104851931-104851932	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191604692	chr7:104851944-104851945	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141620317	chr7:104851954-104851955	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183851362	chr7:104851991-104851992	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554619026	chr7:104852002-104852003	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114113976	chr7:104852012-104852013	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188340846	chr7:104852016-104852017	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104822000-104858800	Weak transcription	Gastric	stomach
2	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
3	chr7:104831200-104851000	Weak transcription	Pancreas	Pancrea
4	chr7:104834600-104851000	Weak transcription	Small Intestine	intestine
5	chr7:104839400-104858400	Weak transcription	NHLF	lung
6	chr7:104839600-104857200	Weak transcription	A549	lung
7	chr7:104841200-104853400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:104841600-104851200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104842000-104851000	Weak transcription	Ovary	ovary
10	chr7:104842000-104851000	Weak transcription	HUVEC	blood vessel
11	chr7:104842200-104865400	Weak transcription	K562	blood
12	chr7:104842400-104857200	Weak transcription	HMEC	breast
13	chr7:104842800-104851200	Weak transcription	Esophagus	oesophagus
14	chr7:104843200-104863400	Weak transcription	HepG2	liver
15	chr7:104843600-104851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:104843800-104851000	Weak transcription	Psoas Muscle	Psoas
17	chr7:104843800-104851000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:104843800-104851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:104843800-104851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:104843800-104851200	Weak transcription	Right Ventricle	heart
21	chr7:104843800-104851200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:104843800-104859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:104844000-104850800	Weak transcription	Liver	Liver
24	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine
25	chr7:104844200-104851000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:104844200-104851000	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
29	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:104844400-104851200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:104844400-104851200	Weak transcription	Adipose Nuclei	Adipose
32	chr7:104844600-104857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:104845200-104851800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:104845400-104851200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:104845400-104851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:104845400-104857000	Weak transcription	NHEK	skin
37	chr7:104845400-104857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:104845400-104858800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:104845600-104851200	Weak transcription	Lung	lung
40	chr7:104845600-104851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:104846200-104850800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:104846400-104850800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:104846400-104850800	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:104846600-104851000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:104846600-104851200	Weak transcription	Left Ventricle	heart
46	chr7:104846600-104851200	Weak transcription	Spleen	Spleen
47	chr7:104846600-104852800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:104847000-104851000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:104847200-104851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:104847200-104862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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