Variant report

Variant	nsv522992
Chromosome Location	chr10:44110341-44114384
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:44111828..44115534-chr10:44118358..44120756,4	K562	blood:
2	chr10:44114091..44116309-chr10:44123569..44126300,2	K562	blood:
3	chr10:44110485..44111989-chr10:44138291..44140917,2	K562	blood:
4	chr10:44101159..44103398-chr10:44111501..44113030,2	MCF-7	breast:
5	chr10:44112275..44114804-chr10:44137796..44140569,2	K562	blood:
6	chr10:44100609..44102686-chr10:44109386..44112543,3	MCF-7	breast:
7	chr10:44052358..44053877-chr10:44114042..44116441,2	K562	blood:
8	chr10:44047252..44049583-chr10:44114219..44116060,2	K562	blood:
9	chr10:44101948..44103736-chr10:44112842..44114358,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198298	chromatin interactions
ENSG00000232004	chromatin interactions
ENSG00000226245	chromatin interactions
ENSG00000223910	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17154020	chr10:44110341-44110342	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535217376	chr10:44110393-44110394	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113894377	chr10:44110394-44110395	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553645947	chr10:44110397-44110398	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148755888	chr10:44110447-44110448	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562022600	chr10:44110455-44110456	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185059212	chr10:44110474-44110475	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575917323	chr10:44110496-44110497	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543430980	chr10:44110556-44110557	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561819694	chr10:44110577-44110578	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs58624696	chr10:44110602-44110603	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558850864	chr10:44110612-44110613	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188769205	chr10:44110620-44110621	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532971402	chr10:44110630-44110631	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370284828	chr10:44110639-44110640	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs17154024	chr10:44110651-44110652	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs530790460	chr10:44110658-44110659	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs193068844	chr10:44110703-44110704	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs567855557	chr10:44110771-44110772	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs67233410	chr10:44110773-44110774	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs201649125	chr10:44110776-44110777	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs76158128	chr10:44110778-44110779	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs73260732	chr10:44110828-44110829	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369598002	chr10:44110842-44110843	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs185842888	chr10:44110851-44110852	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs539254329	chr10:44110881-44110882	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189164924	chr10:44110898-44110899	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs11818381	chr10:44110907-44110908	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs180686807	chr10:44110921-44110922	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs183830378	chr10:44110931-44110932	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs536632847	chr10:44110935-44110936	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs188543946	chr10:44110942-44110943	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs564712455	chr10:44110943-44110944	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375052016	chr10:44110946-44110947	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142043310	chr10:44110948-44110949	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559239048	chr10:44110952-44110953	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs11819721	chr10:44110968-44110969	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs201736105	chr10:44110982-44110983	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577389473	chr10:44110993-44110994	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113976263	chr10:44111041-44111042	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs545217421	chr10:44111051-44111052	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs181355395	chr10:44111070-44111071	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs531078453	chr10:44111079-44111080	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549108056	chr10:44111102-44111103	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs146319589	chr10:44111108-44111109	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs139711561	chr10:44111139-44111140	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144369058	chr10:44111217-44111218	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186676122	chr10:44111254-44111255	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs61859185	chr10:44111389-44111390	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73260736	chr10:44111433-44111434	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44102600-44112200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:44102800-44110800	Weak transcription	Gastric	stomach
3	chr10:44102800-44110800	Weak transcription	Small Intestine	intestine
4	chr10:44102800-44110800	Weak transcription	Stomach Mucosa	stomach
5	chr10:44102800-44111000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:44102800-44111200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:44102800-44111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:44102800-44111400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:44102800-44111400	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:44102800-44111400	Weak transcription	Fetal Lung	lung
11	chr10:44102800-44111600	Weak transcription	Left Ventricle	heart
12	chr10:44102800-44111800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:44102800-44111800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:44102800-44111800	Weak transcription	Brain Germinal Matrix	brain
15	chr10:44102800-44111800	Weak transcription	Brain Substantia Nigra	brain
16	chr10:44102800-44111800	Weak transcription	Fetal Kidney	kidney
17	chr10:44102800-44111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:44102800-44111800	Weak transcription	Right Ventricle	heart
19	chr10:44102800-44118800	Weak transcription	Fetal Heart	heart
20	chr10:44103000-44111200	Weak transcription	Fetal Brain Female	brain
21	chr10:44103000-44111400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:44103000-44111400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:44103000-44111400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:44103000-44111600	Weak transcription	Fetal Brain Male	brain
25	chr10:44103000-44111800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr10:44103000-44111800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:44103000-44111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:44103000-44111800	Weak transcription	Colonic Mucosa	Colon
29	chr10:44103000-44112200	Weak transcription	Brain Angular Gyrus	brain
30	chr10:44104600-44111800	Weak transcription	Pancreas	Pancrea
31	chr10:44104800-44111800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr10:44105400-44111000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:44105600-44111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:44105800-44111200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:44105800-44111600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:44106000-44114200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:44106200-44113400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr10:44106200-44113600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:44106400-44112400	Weak transcription	Brain Anterior Caudate	brain
40	chr10:44107800-44113800	ZNF genes & repeats	Liver	Liver
41	chr10:44108400-44110800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:44108600-44111000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:44108600-44113000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr10:44108600-44113000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:44108600-44113200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:44108600-44113400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr10:44108800-44110400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr10:44108800-44110600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr10:44108800-44111600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:44108800-44111800	Strong transcription	Ovary	ovary

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