Variant report

Variant	nsv1008206
Chromosome Location	chr2:168401249-168452887
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
2	chr2:168406722..168407375-chr2:168975138..168975697,2	MCF-7	breast:
3	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
4	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:
5	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
6	chr2:168427437..168429430-chr2:168431335..168434015,2	K562	blood:
7	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
8	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
9	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:
10	chr2:168436976..168439202-chr2:168443810..168446763,2	K562	blood:
11	chr2:167395944..167396563-chr2:168406690..168407659,4	MCF-7	breast:
12	chr2:168120652..168121595-chr2:168406649..168407520,3	MCF-7	breast:
13	chr2:168432443..168434147-chr2:168458240..168461184,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XIRP2-1	chr2:168414647-168414843	XLOC_001742

No data

Extended variants
information (count: 2072 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2072 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183152653	chr2:168401257-168401258	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564404249	chr2:168401278-168401279	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577198583	chr2:168401296-168401297	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116468160	chr2:168401316-168401317	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559905507	chr2:168401319-168401320	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187083468	chr2:168401324-168401325	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548803476	chr2:168401337-168401338	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111901467	chr2:168401355-168401356	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1227124	chr2:168401364-168401365	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572450482	chr2:168401398-168401399	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192857887	chr2:168401414-168401415	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs571102439	chr2:168401419-168401420	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140088432	chr2:168401438-168401439	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113313702	chr2:168401451-168401452	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184838389	chr2:168401461-168401462	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12151712	chr2:168401474-168401475	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370365001	chr2:168401531-168401532	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374715003	chr2:168401532-168401533	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138819568	chr2:168401533-168401534	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs36023237	chr2:168401534-168401535	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112265503	chr2:168401538-168401539	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535128575	chr2:168401570-168401571	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574457893	chr2:168401583-168401584	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543574053	chr2:168401584-168401585	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555149577	chr2:168401606-168401607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563833403	chr2:168401607-168401608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532484837	chr2:168401614-168401615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545229961	chr2:168401615-168401616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566204913	chr2:168401630-168401631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577836836	chr2:168401635-168401636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545900527	chr2:168401637-168401638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10165937	chr2:168401645-168401646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577381093	chr2:168401669-168401670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374539567	chr2:168401726-168401727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187721465	chr2:168401729-168401730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13395768	chr2:168401736-168401737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143682333	chr2:168401739-168401740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192338853	chr2:168401746-168401747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4233814	chr2:168401752-168401753	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546188999	chr2:168401766-168401767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566088471	chr2:168401767-168401768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185682638	chr2:168401772-168401773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189492100	chr2:168401773-168401774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112007353	chr2:168401787-168401788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192038244	chr2:168401788-168401789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538349877	chr2:168401792-168401793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143932032	chr2:168401808-168401809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534041881	chr2:168401815-168401816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554101171	chr2:168401825-168401826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573322746	chr2:168401828-168401829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168385600-168411600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:168393400-168412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:168398400-168407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:168398600-168407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:168399800-168408000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:168400400-168401400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:168400400-168402000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:168400400-168405000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:168400600-168401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:168401000-168401600	Active TSS	K562	blood
13	chr2:168401200-168401400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:168401400-168402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:168401400-168412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:168401800-168404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:168402000-168407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:168402600-168403800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:168402800-168403600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:168402800-168403600	Enhancers	HepG2	liver
22	chr2:168403000-168403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:168403200-168408600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:168403400-168403600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:168403400-168403800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:168403800-168404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:168404200-168404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:168406000-168406200	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:168406600-168407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:168407400-168408400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:168407400-168408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:168407400-168413200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:168407600-168408400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:168407600-168408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:168407800-168408200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:168407800-168408400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:168408000-168408400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:168408000-168408400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:168408400-168411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:168408400-168413000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:168408600-168408800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:168408800-168410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:168409800-168411800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:168411600-168412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr2:168411800-168412000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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