Variant report

Variant	nsv961012
Chromosome Location	chr2:234740682-234742127
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:0)
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	chr2:234404504..234406876-chr2:234739242..234740869,2	MCF-7	breast:
2	chr2:234312633..234313516-chr2:234741267..234742065,2	MCF-7	breast:
3	chr2:234741715..234743297-chr2:234743662..234746338,2	MCF-7	breast:
4	chr2:234388813..234389712-chr2:234741180..234742155,6	MCF-7	breast:
5	chr2:234388065..234390771-chr2:234740107..234742680,2	MCF-7	breast:
6	chr2:234160919..234163001-chr2:234739570..234741620,2	MCF-7	breast:
7	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
8	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
9	chr2:234736743..234738752-chr2:234740641..234743025,2	MCF-7	breast:
10	chr2:234738464..234743191-chr2:234754553..234759702,7	K562	blood:
11	chr2:234599519..234601666-chr2:234740030..234742555,2	MCF-7	breast:
12	chr2:234389169..234389811-chr2:234741540..234742123,2	MCF-7	breast:
13	chr2:234357692..234358639-chr2:234741167..234741785,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167165	chromatin interactions
ENSG00000085982	chromatin interactions
ENSG00000123485	chromatin interactions
ENSG00000185038	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538549998	chr2:234740703-234740704	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs117231532	chr2:234740704-234740705	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs568453830	chr2:234740707-234740708	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs140536418	chr2:234740715-234740716	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs553847540	chr2:234740750-234740751	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs213547	chr2:234740758-234740759	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs202215760	chr2:234740797-234740798	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs369223468	chr2:234740798-234740799	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs35859448	chr2:234740829-234740830	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs566541482	chr2:234740850-234740851	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs558346560	chr2:234740881-234740882	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs575421679	chr2:234740984-234740985	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs386656383	chr2:234740985-234740986	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200223979	chr2:234740987-234740988	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs574369304	chr2:234740991-234740992	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs540258744	chr2:234740992-234740993	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs122856	chr2:234741022-234741023	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3832148	chr2:234741027-234741028	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs5839496	chr2:234741028-234741029	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs33951293	chr2:234741029-234741030	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs563011105	chr2:234741075-234741076	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs532258656	chr2:234741107-234741108	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552772868	chr2:234741137-234741138	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs563074856	chr2:234741145-234741146	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370362482	chr2:234741167-234741168	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs373815612	chr2:234741182-234741183	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs531873239	chr2:234741192-234741193	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs548856952	chr2:234741237-234741238	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs150118531	chr2:234741266-234741267	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs188847869	chr2:234741286-234741287	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs547422239	chr2:234741296-234741297	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574095814	chr2:234741301-234741302	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs372775145	chr2:234741316-234741317	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs192413708	chr2:234741319-234741320	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542977422	chr2:234741338-234741339	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558285119	chr2:234741342-234741343	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs575385639	chr2:234741368-234741369	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs543008661	chr2:234741385-234741386	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2270854	chr2:234741401-234741402	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554826221	chr2:234741403-234741404	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs573270895	chr2:234741404-234741405	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs540198635	chr2:234741424-234741425	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs213548	chr2:234741443-234741444	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs576962617	chr2:234741463-234741464	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs545925952	chr2:234741477-234741478	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs371928518	chr2:234741481-234741482	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs115169157	chr2:234741494-234741495	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs34349838	chr2:234741495-234741496	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs531931207	chr2:234741592-234741593	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs548529442	chr2:234741607-234741608	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234731800-234741200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:234732000-234741200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:234732200-234742000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:234733400-234742200	Weak transcription	Liver	Liver
5	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
6	chr2:234737800-234741600	Weak transcription	Dnd41	blood
7	chr2:234738200-234741000	Weak transcription	Osteobl	bone
8	chr2:234738200-234744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:234738200-234762000	Weak transcription	Esophagus	oesophagus
10	chr2:234738400-234741600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:234738400-234741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:234738800-234743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:234738800-234744000	Weak transcription	NHLF	lung
14	chr2:234739000-234740800	Strong transcription	Fetal Stomach	stomach
15	chr2:234739000-234742600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:234739000-234742600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:234739200-234742600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:234739200-234743000	Weak transcription	HepG2	liver
19	chr2:234739400-234741000	Genic enhancers	A549	lung
20	chr2:234739400-234742600	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:234739400-234744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:234739600-234747600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:234739800-234742600	Enhancers	Fetal Muscle Leg	muscle
24	chr2:234739800-234752800	Weak transcription	Spleen	Spleen
25	chr2:234740000-234741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:234740000-234742400	Weak transcription	Fetal Thymus	thymus
27	chr2:234740000-234760000	Strong transcription	Thymus	Thymus
28	chr2:234740200-234740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:234740200-234741000	Weak transcription	NHEK	skin
30	chr2:234740200-234741400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:234740200-234741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:234740200-234741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:234740200-234742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:234740200-234742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:234740200-234743000	Weak transcription	HMEC	breast
36	chr2:234740200-234761000	Weak transcription	Primary B cells from cord blood	blood
37	chr2:234740400-234762200	Weak transcription	Primary T cells from cord blood	blood
38	chr2:234740600-234742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:234740600-234742600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:234740600-234742600	Weak transcription	GM12878-XiMat	blood
41	chr2:234740600-234743600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:234740800-234741200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:234740800-234741400	Weak transcription	Fetal Stomach	stomach
44	chr2:234740800-234742200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:234740800-234742600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:234740800-234742600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:234740800-234743400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:234741000-234741600	Enhancers	Osteobl	bone
49	chr2:234741000-234741800	Enhancers	A549	lung
50	chr2:234741000-234741800	Enhancers	NHEK	skin

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