Variant report

Variant	nsv10204
Chromosome Location	chr2:183609768-183639750
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	chr2:183603082..183605652-chr2:183608398..183611324,2	K562	blood:
2	chr2:183616174..183617713-chr2:183625030..183626585,2	MCF-7	breast:
3	chr2:183615250..183618246-chr2:183622533..183624342,2	K562	blood:
4	chr2:183622731..183624252-chr2:183625888..183627970,2	K562	blood:
5	chr2:183580042..183581600-chr2:183608683..183611229,2	MCF-7	breast:
6	chr2:183598485..183600408-chr2:183608277..183611050,2	MCF-7	breast:
7	chr2:183632424..183632937-chr2:183844464..183845026,2	K562	blood:
8	chr2:183615854..183617746-chr2:183618708..183621163,2	K562	blood:
9	chr2:183615854..183617746-chr2:183618708..183621163,2	K562	blood:
10	chr2:183618431..183622157-chr2:183625093..183627097,3	K562	blood:
11	chr2:183579077..183581279-chr2:183626504..183629491,2	K562	blood:
12	chr2:183600722..183602612-chr2:183608045..183610895,3	K562	blood:
13	chr2:183615250..183618246-chr2:183622533..183624342,2	K562	blood:
14	chr2:183618431..183622157-chr2:183625093..183627097,3	K562	blood:
15	chr2:183628146..183628821-chr2:183844437..183845367,4	K562	blood:
16	chr2:183619535..183621999-chr2:183651493..183653388,2	K562	blood:
17	chr2:183622731..183624252-chr2:183625888..183627970,2	K562	blood:
18	chr2:183596118..183599197-chr2:183620167..183622183,3	K562	blood:
19	chr2:183616174..183617713-chr2:183625030..183626585,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000077232	chromatin interactions
ENSG00000232430	chromatin interactions

Extended variants
information (count: 1200 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566820390	chr2:183609779-183609780	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147955686	chr2:183609792-183609793	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544610481	chr2:183609835-183609836	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535464576	chr2:183609844-183609845	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193110610	chr2:183609845-183609846	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184269373	chr2:183609866-183609867	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554833350	chr2:183609877-183609878	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574569716	chr2:183609882-183609883	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140744669	chr2:183609914-183609915	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553789713	chr2:183609931-183609932	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369337667	chr2:183609953-183609954	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556963251	chr2:183609979-183609980	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56410902	chr2:183609984-183609985	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189371745	chr2:183610143-183610144	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77882246	chr2:183610185-183610186	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531336258	chr2:183610270-183610271	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544375000	chr2:183610278-183610279	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78677884	chr2:183610319-183610320	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149655784	chr2:183610329-183610330	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542230464	chr2:183610343-183610344	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562306282	chr2:183610398-183610399	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs409343	chr2:183610406-183610407	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573985098	chr2:183610420-183610421	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544627440	chr2:183610421-183610422	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181174897	chr2:183610424-183610425	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532531800	chr2:183610425-183610426	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533604025	chr2:183610433-183610434	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115808795	chr2:183610435-183610436	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs418474	chr2:183610466-183610467	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs529362851	chr2:183610470-183610471	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549360201	chr2:183610492-183610493	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35188379	chr2:183610493-183610494	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538314145	chr2:183610552-183610553	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184114173	chr2:183610572-183610573	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568207864	chr2:183610606-183610607	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533748869	chr2:183610608-183610609	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554031076	chr2:183610626-183610627	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs418159	chr2:183610629-183610630	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs545375832	chr2:183610639-183610640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200615437	chr2:183610666-183610667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs384190	chr2:183610667-183610668	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541488342	chr2:183610679-183610680	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561633105	chr2:183610680-183610681	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188854363	chr2:183610686-183610687	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540512979	chr2:183610694-183610695	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560826680	chr2:183610708-183610709	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532884899	chr2:183610742-183610743	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181445625	chr2:183610759-183610760	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562837828	chr2:183610811-183610812	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531748229	chr2:183610911-183610912	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
2	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
3	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
4	chr2:183581800-183647600	Weak transcription	Gastric	stomach
5	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
6	chr2:183582400-183610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183582600-183610600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
9	chr2:183582800-183610000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:183582800-183610000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:183582800-183614600	Weak transcription	Fetal Brain Male	brain
12	chr2:183584200-183610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:183584800-183610200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:183584800-183610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:183584800-183610400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:183588600-183611200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
18	chr2:183591400-183610400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:183591400-183622600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:183599200-183610400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:183599800-183610400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:183600000-183610400	Strong transcription	HUVEC	blood vessel
23	chr2:183600200-183610400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:183600800-183610400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:183600800-183610400	Strong transcription	NH-A	brain
26	chr2:183601000-183610400	Strong transcription	Osteobl	bone
27	chr2:183601600-183620000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:183602600-183622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:183602600-183624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:183603200-183622400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:183604600-183610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:183604600-183610400	Strong transcription	Placenta	Placenta
33	chr2:183605000-183610000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:183605000-183610400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:183605000-183610400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:183605200-183610400	Strong transcription	Adipose Nuclei	Adipose
37	chr2:183605200-183610400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:183605200-183610400	Strong transcription	HMEC	breast
39	chr2:183605200-183610600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:183605200-183610800	Strong transcription	Fetal Intestine Large	intestine
41	chr2:183605400-183610200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:183605400-183610400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:183605600-183610200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:183605600-183610400	Strong transcription	Brain Anterior Caudate	brain
45	chr2:183605600-183610600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:183605800-183611000	Strong transcription	Fetal Thymus	thymus
48	chr2:183605800-183614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:183606000-183622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:183606000-183624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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