Variant report

Variant	nsv1012367
Chromosome Location	chr2:169797666-169821132
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:169818298..169818897-chr2:169965742..169966875,4	K562	blood:
2	chr2:169804921..169805756-chr2:170253961..170254734,2	MCF-7	breast:
3	chr2:169817863..169818829-chr2:169997380..169999266,9	K562	blood:
4	chr2:169816630..169819073-chr2:169825664..169828011,2	K562	blood:
5	chr2:169814051..169816137-chr2:169816733..169819588,2	MCF-7	breast:
6	chr2:169630102..169630887-chr2:169804877..169805660,3	MCF-7	breast:
7	chr2:169817898..169818621-chr2:169988130..169988983,4	MCF-7	breast:
8	chr2:169817853..169818805-chr2:169987476..169989129,6	K562	blood:
9	chr2:169818061..169818745-chr2:170078037..170078977,2	MCF-7	breast:
10	chr2:169814051..169816137-chr2:169816733..169819588,2	MCF-7	breast:
11	chr2:169817883..169818504-chr2:169965996..169966724,2	MCF-7	breast:
12	chr2:169817863..169818742-chr2:170078413..170079041,3	K562	blood:
13	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:
14	chr2:169817874..169818883-chr2:169988110..169989002,6	MCF-7	breast:
15	chr2:169817359..169819675-chr2:169839586..169842251,2	K562	blood:
16	chr2:169792537..169795729-chr2:169800668..169803473,3	K562	blood:
17	chr2:169797130..169797902-chr4:70311918..70312713,2	MCF-7	breast:
18	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:
19	chr2:169818313..169818917-chr2:170078254..170079024,2	MCF-7	breast:
20	chr2:169792449..169795110-chr2:169797440..169799933,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000073734	chromatin interactions

Extended variants
information (count: 878 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2685810	chr2:169797732-169797733	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542120968	chr2:169797816-169797817	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548250948	chr2:169797826-169797827	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4516393	chr2:169797878-169797879	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530646987	chr2:169797887-169797888	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2685811	chr2:169797927-169797928	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569920126	chr2:169798014-169798015	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79609490	chr2:169798015-169798016	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77601801	chr2:169798033-169798034	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115233753	chr2:169798079-169798080	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534738110	chr2:169798108-169798109	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546737866	chr2:169798144-169798145	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78386555	chr2:169798150-169798151	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140801079	chr2:169798159-169798160	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192235002	chr2:169798168-169798169	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2685812	chr2:169798171-169798172	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs557279018	chr2:169798188-169798189	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183405292	chr2:169798189-169798190	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150443370	chr2:169798239-169798240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546111037	chr2:169798269-169798270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187616460	chr2:169798279-169798280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192190298	chr2:169798308-169798309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73016694	chr2:169798315-169798316	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77913588	chr2:169798363-169798364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184185831	chr2:169798426-169798427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530477217	chr2:169798431-169798432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2685813	chr2:169798439-169798440	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs563533781	chr2:169798555-169798556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2685814	chr2:169798619-169798620	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552433423	chr2:169798636-169798637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566002137	chr2:169798637-169798638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535339554	chr2:169798652-169798653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138421062	chr2:169798703-169798704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35384412	chr2:169798713-169798714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568443297	chr2:169798724-169798725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3084063	chr2:169798732-169798733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200248646	chr2:169798735-169798736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71003065	chr2:169798736-169798737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2216503	chr2:169798737-169798738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78505070	chr2:169798739-169798740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187090528	chr2:169798743-169798744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373975082	chr2:169798789-169798790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537145726	chr2:169798808-169798809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557530621	chr2:169798815-169798816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13407637	chr2:169798850-169798851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571530409	chr2:169798885-169798886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577095623	chr2:169798923-169798924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534153214	chr2:169798970-169798971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539671967	chr2:169798975-169798976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6709087	chr2:169799010-169799011	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:49)

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
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Breast cancer	22522925	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169788200-169802600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:169793600-169799800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:169796000-169801000	Strong transcription	Liver	Liver
4	chr2:169796400-169797800	Enhancers	K562	blood
5	chr2:169797200-169798600	Enhancers	Fetal Heart	heart
6	chr2:169797800-169798200	Flanking Active TSS	K562	blood
7	chr2:169798200-169798400	Enhancers	K562	blood
8	chr2:169798400-169800000	Weak transcription	K562	blood
9	chr2:169798600-169799600	Weak transcription	Fetal Heart	heart
10	chr2:169799600-169800200	Enhancers	Fetal Heart	heart
11	chr2:169799800-169801200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:169800000-169801200	Enhancers	K562	blood
13	chr2:169801000-169802000	Genic enhancers	Liver	Liver
14	chr2:169802000-169802600	Weak transcription	Liver	Liver
15	chr2:169802600-169803600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:169802600-169818000	Strong transcription	Liver	Liver
17	chr2:169804200-169804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:169804200-169805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:169804600-169805000	Enhancers	HMEC	breast
20	chr2:169804600-169805200	Active TSS	Aorta	Aorta
21	chr2:169808400-169812200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:169815200-169815600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:169815600-169817400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:169816000-169816200	Enhancers	Brain Substantia Nigra	brain
25	chr2:169816000-169816400	Enhancers	Brain Angular Gyrus	brain
26	chr2:169816200-169816400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr2:169816400-169816600	Enhancers	Brain Substantia Nigra	brain
28	chr2:169816400-169816800	Enhancers	Brain Hippocampus Middle	brain
29	chr2:169816600-169816800	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr2:169816800-169817000	Enhancers	Brain Substantia Nigra	brain
31	chr2:169817400-169819200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:169818000-169818200	Enhancers	Brain Angular Gyrus	brain
33	chr2:169818000-169818600	Weak transcription	Liver	Liver
34	chr2:169818000-169818800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:169818000-169819400	Enhancers	HUVEC	blood vessel
36	chr2:169818200-169818600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:169818200-169818600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:169818200-169818800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:169818400-169818600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:169818600-169819200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:169818600-169819200	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:169818600-169819800	Enhancers	Liver	Liver
43	chr2:169818600-169820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:169818600-169820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:169818600-169820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:169818800-169820400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:169818800-169826600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:169819000-169819200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:169819000-169819400	Enhancers	Osteobl	bone
50	chr2:169819000-169819600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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