Variant report

Variant	nsv442078
Chromosome Location	chr7:153149121-153194366
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:153096512..153100597-chr7:153175371..153177855,3	K562	blood:
2	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
3	chr7:153105650..153108822-chr7:153162776..153165855,3	K562	blood:
4	chr7:153168007..153170058-chr7:153173069..153175885,2	K562	blood:
5	chr7:153111734..153114146-chr7:153170231..153173109,2	K562	blood:
6	chr7:153119320..153121928-chr7:153170985..153172845,2	K562	blood:
7	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
8	chr7:153103747..153106321-chr7:153180376..153182318,2	K562	blood:
9	chr7:153102849..153104905-chr7:153187331..153188983,2	K562	blood:
10	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
11	chr16:1825198..1826827-chr7:153150973..153152473,2	K562	blood:
12	chr7:153168007..153170058-chr7:153173069..153175885,2	K562	blood:
13	chr7:153144216..153146051-chr7:153150642..153152282,2	K562	blood:
14	chr7:153103375..153106774-chr7:153173661..153176724,3	K562	blood:
15	chr7:153106993..153109091-chr7:153192344..153194750,2	K562	blood:
16	chr7:153104593..153107356-chr7:153151532..153153946,4	K562	blood:
17	chr7:153145961..153147522-chr7:153147556..153149926,2	K562	blood:
18	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
19	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
20	chr7:153101066..153103741-chr7:153151385..153153304,3	K562	blood:
21	chr7:153099524..153101138-chr7:153168192..153169885,2	K562	blood:
22	chr7:153098213..153100977-chr7:153153610..153156518,2	K562	blood:
23	chr7:153102748..153104810-chr7:153194160..153196266,2	K562	blood:
24	chr7:153098922..153104611-chr7:153159671..153165769,5	K562	blood:
25	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
26	chr7:153105710..153107855-chr7:153165499..153167992,2	K562	blood:
27	chr7:153089054..153091644-chr7:153185631..153188291,2	K562	blood:
28	chr7:153179767..153181427-chr7:153183794..153186407,2	K562	blood:
29	chr7:153102564..153104715-chr7:153192183..153194069,2	K562	blood:
30	chr7:153104012..153105714-chr7:153166504..153168791,2	K562	blood:
31	chr7:153179767..153181427-chr7:153183794..153186407,2	K562	blood:
32	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
33	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
34	chr7:153103693..153106480-chr7:153169343..153171365,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197774	chromatin interactions
ENSG00000233489	chromatin interactions

Extended variants
information (count: 811 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570744910	chr7:153149122-153149123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567010068	chr7:153149135-153149136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546897814	chr7:153149146-153149147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148505716	chr7:153149150-153149151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138966138	chr7:153149162-153149163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201095160	chr7:153149163-153149164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72200518	chr7:153149164-153149165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55844160	chr7:153149165-153149166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34512336	chr7:153149230-153149231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73491091	chr7:153149276-153149277	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116646764	chr7:153149286-153149287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113151756	chr7:153149336-153149337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557761539	chr7:153149360-153149361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573175922	chr7:153149361-153149362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377487897	chr7:153149367-153149368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115943562	chr7:153149402-153149403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532128660	chr7:153149408-153149409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182064400	chr7:153149469-153149470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111433380	chr7:153149509-153149510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186542549	chr7:153149524-153149525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142809199	chr7:153149536-153149537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571328314	chr7:153149557-153149558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538940647	chr7:153149592-153149593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552181063	chr7:153149613-153149614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553744709	chr7:153149647-153149648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528111890	chr7:153149653-153149654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546538696	chr7:153149678-153149679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568349518	chr7:153149715-153149716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200817825	chr7:153149760-153149761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1444463	chr7:153149762-153149763	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550790562	chr7:153149777-153149778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35266101	chr7:153149840-153149841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568992166	chr7:153149867-153149868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539571355	chr7:153149874-153149875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557851547	chr7:153149885-153149886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543975543	chr7:153149903-153149904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146259724	chr7:153149908-153149909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572867277	chr7:153149972-153149973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534206933	chr7:153150026-153150027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190932316	chr7:153150041-153150042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547395989	chr7:153150043-153150044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139434722	chr7:153150048-153150049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76409567	chr7:153150087-153150088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578230456	chr7:153150088-153150089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1444462	chr7:153150090-153150091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564183218	chr7:153150117-153150118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144079899	chr7:153150188-153150189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1444461	chr7:153150189-153150190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs146481273	chr7:153150232-153150233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370725010	chr7:153150278-153150279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153134400-153159200	Weak transcription	Right Atrium	heart
2	chr7:153145200-153150400	Weak transcription	Fetal Kidney	kidney
3	chr7:153150400-153153600	Enhancers	Fetal Kidney	kidney
4	chr7:153153600-153155000	Weak transcription	Fetal Kidney	kidney
5	chr7:153154600-153155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:153154800-153155800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:153154800-153155800	Enhancers	Brain Germinal Matrix	brain
8	chr7:153154800-153156000	Enhancers	Stomach Smooth Muscle	stomach
9	chr7:153155000-153155400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:153155000-153156000	Enhancers	Fetal Kidney	kidney
11	chr7:153155200-153155800	Enhancers	Colon Smooth Muscle	Colon
12	chr7:153155200-153156000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:153155600-153156000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:153167200-153168400	Bivalent Enhancer	K562	blood
15	chr7:153169400-153169800	Enhancers	Spleen	Spleen
16	chr7:153169600-153169800	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:153169600-153169800	Bivalent Enhancer	K562	blood
18	chr7:153169800-153170000	Enhancers	K562	blood
19	chr7:153169800-153170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:153169800-153170600	Enhancers	Fetal Kidney	kidney
21	chr7:153170000-153170800	Enhancers	Colon Smooth Muscle	Colon
22	chr7:153170000-153171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:153170400-153171000	Enhancers	Ovary	ovary
24	chr7:153170600-153171400	Weak transcription	Fetal Kidney	kidney
25	chr7:153171400-153171600	Enhancers	Fetal Kidney	kidney
26	chr7:153171400-153171800	Enhancers	Fetal Muscle Leg	muscle
27	chr7:153171600-153171800	Weak transcription	Right Atrium	heart
28	chr7:153171600-153172600	Weak transcription	Fetal Kidney	kidney
29	chr7:153171800-153172000	Enhancers	Right Atrium	heart
30	chr7:153171800-153172200	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:153172000-153175200	Weak transcription	Right Atrium	heart
32	chr7:153172200-153173400	Enhancers	Fetal Muscle Leg	muscle
33	chr7:153172400-153172600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:153172600-153172800	Enhancers	Fetal Kidney	kidney
35	chr7:153172600-153173400	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:153173400-153175600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:153175200-153176200	ZNF genes & repeats	Right Atrium	heart
40	chr7:153175600-153176200	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:153176400-153176600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:153192000-153192200	Enhancers	Left Ventricle	heart
43	chr7:153192000-153192600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:153192800-153194000	Enhancers	Stomach Smooth Muscle	stomach
45	chr7:153193000-153193800	Enhancers	Adipose Nuclei	Adipose
46	chr7:153193400-153193800	Enhancers	Rectal Smooth Muscle	rectum

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