Variant report

Variant	esv3692950
Chromosome Location	chr7:153148355-153201572
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:153104593..153107356-chr7:153151532..153153946,4	K562	blood:
2	chr7:153092517..153095170-chr7:153147417..153149033,2	K562	blood:
3	chr7:153103747..153106321-chr7:153180376..153182318,2	K562	blood:
4	chr7:153102849..153104905-chr7:153187331..153188983,2	K562	blood:
5	chr7:153099524..153101138-chr7:153168192..153169885,2	K562	blood:
6	chr7:153109911..153112162-chr7:153199634..153201415,2	K562	blood:
7	chr7:153168007..153170058-chr7:153173069..153175885,2	K562	blood:
8	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
9	chr7:153111734..153114146-chr7:153170231..153173109,2	K562	blood:
10	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
11	chr7:153102748..153104810-chr7:153194160..153196266,2	K562	blood:
12	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
13	chr7:153101066..153103741-chr7:153151385..153153304,3	K562	blood:
14	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
15	chr7:153096512..153100597-chr7:153175371..153177855,3	K562	blood:
16	chr7:153089054..153091644-chr7:153185631..153188291,2	K562	blood:
17	chr7:153103375..153106774-chr7:153173661..153176724,3	K562	blood:
18	chr7:153104012..153105714-chr7:153166504..153168791,2	K562	blood:
19	chr7:153109482..153112162-chr7:153199634..153202345,2	K562	blood:
20	chr7:153119320..153121928-chr7:153170985..153172845,2	K562	blood:
21	chr7:153106993..153109091-chr7:153192344..153194750,2	K562	blood:
22	chr7:153098922..153104611-chr7:153159671..153165769,5	K562	blood:
23	chr7:153105650..153108822-chr7:153162776..153165855,3	K562	blood:
24	chr16:1825198..1826827-chr7:153150973..153152473,2	K562	blood:
25	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
26	chr7:153105710..153107855-chr7:153165499..153167992,2	K562	blood:
27	chr7:153179767..153181427-chr7:153183794..153186407,2	K562	blood:
28	chr7:153179767..153181427-chr7:153183794..153186407,2	K562	blood:
29	chr7:153145961..153147522-chr7:153147556..153149926,2	K562	blood:
30	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
31	chr7:153102564..153104715-chr7:153192183..153194069,2	K562	blood:
32	chr7:153144216..153146051-chr7:153150642..153152282,2	K562	blood:
33	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
34	chr7:153098213..153100977-chr7:153153610..153156518,2	K562	blood:
35	chr7:153103693..153106480-chr7:153169343..153171365,2	K562	blood:
36	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
37	chr7:153168007..153170058-chr7:153173069..153175885,2	K562	blood:
38	chr7:153104280..153106430-chr7:153200479..153202606,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234722	chromatin interactions
ENSG00000233489	chromatin interactions
ENSG00000197774	chromatin interactions

Extended variants
information (count: 908 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12703306	chr7:153148355-153148356	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529560066	chr7:153148380-153148381	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7803498	chr7:153148397-153148398	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7803638	chr7:153148407-153148408	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6971281	chr7:153148433-153148434	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141174088	chr7:153148470-153148471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147111627	chr7:153148499-153148500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181356807	chr7:153148558-153148559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34599383	chr7:153148574-153148575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138548168	chr7:153148576-153148577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143943085	chr7:153148585-153148586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537059300	chr7:153148599-153148600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558848655	chr7:153148606-153148607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142601386	chr7:153148621-153148622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147304702	chr7:153148651-153148652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374997937	chr7:153148724-153148725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6971902	chr7:153148726-153148727	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28641487	chr7:153148733-153148734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574856723	chr7:153148749-153148750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541932434	chr7:153148760-153148761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557446164	chr7:153148789-153148790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575196080	chr7:153148804-153148805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376152638	chr7:153148806-153148807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545794764	chr7:153148807-153148808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372555217	chr7:153148821-153148822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139918193	chr7:153148852-153148853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28457001	chr7:153148887-153148888	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527239373	chr7:153148902-153148903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529510647	chr7:153148945-153148946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149371686	chr7:153148949-153148950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144757861	chr7:153149010-153149011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186445791	chr7:153149038-153149039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189432295	chr7:153149047-153149048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570744910	chr7:153149122-153149123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567010068	chr7:153149135-153149136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546897814	chr7:153149146-153149147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148505716	chr7:153149150-153149151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138966138	chr7:153149162-153149163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201095160	chr7:153149163-153149164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72200518	chr7:153149164-153149165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55844160	chr7:153149165-153149166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34512336	chr7:153149230-153149231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73491091	chr7:153149276-153149277	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116646764	chr7:153149286-153149287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113151756	chr7:153149336-153149337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557761539	chr7:153149360-153149361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573175922	chr7:153149361-153149362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377487897	chr7:153149367-153149368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115943562	chr7:153149402-153149403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532128660	chr7:153149408-153149409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chordoma	21215367	CNVD

Chromatin state (count:49 , 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	chr7:153148000-153148400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:153150400-153153600	Enhancers	Fetal Kidney	kidney
5	chr7:153153600-153155000	Weak transcription	Fetal Kidney	kidney
6	chr7:153154600-153155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:153154800-153155800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:153154800-153155800	Enhancers	Brain Germinal Matrix	brain
9	chr7:153154800-153156000	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:153155000-153155400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:153155000-153156000	Enhancers	Fetal Kidney	kidney
12	chr7:153155200-153155800	Enhancers	Colon Smooth Muscle	Colon
13	chr7:153155200-153156000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:153155600-153156000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:153167200-153168400	Bivalent Enhancer	K562	blood
16	chr7:153169400-153169800	Enhancers	Spleen	Spleen
17	chr7:153169600-153169800	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:153169600-153169800	Bivalent Enhancer	K562	blood
19	chr7:153169800-153170000	Enhancers	K562	blood
20	chr7:153169800-153170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:153169800-153170600	Enhancers	Fetal Kidney	kidney
22	chr7:153170000-153170800	Enhancers	Colon Smooth Muscle	Colon
23	chr7:153170000-153171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:153170400-153171000	Enhancers	Ovary	ovary
25	chr7:153170600-153171400	Weak transcription	Fetal Kidney	kidney
26	chr7:153171400-153171600	Enhancers	Fetal Kidney	kidney
27	chr7:153171400-153171800	Enhancers	Fetal Muscle Leg	muscle
28	chr7:153171600-153171800	Weak transcription	Right Atrium	heart
29	chr7:153171600-153172600	Weak transcription	Fetal Kidney	kidney
30	chr7:153171800-153172000	Enhancers	Right Atrium	heart
31	chr7:153171800-153172200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:153172000-153175200	Weak transcription	Right Atrium	heart
33	chr7:153172200-153173400	Enhancers	Fetal Muscle Leg	muscle
34	chr7:153172400-153172600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:153172600-153172800	Enhancers	Fetal Kidney	kidney
36	chr7:153172600-153173400	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:153173400-153175600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:153175200-153176200	ZNF genes & repeats	Right Atrium	heart
41	chr7:153175600-153176200	Enhancers	Fetal Muscle Trunk	muscle
42	chr7:153176400-153176600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:153192000-153192200	Enhancers	Left Ventricle	heart
44	chr7:153192000-153192600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:153192800-153194000	Enhancers	Stomach Smooth Muscle	stomach
46	chr7:153193000-153193800	Enhancers	Adipose Nuclei	Adipose
47	chr7:153193400-153193800	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:153201000-153201400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:153201400-153202000	Enhancers	Stomach Smooth Muscle	stomach

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