Variant report

Variant	esv2440022
Chromosome Location	chr2:191230694-191230737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:191230313-191231529	GM12878	blood:	n/a	n/a
2	BCL3	chr2:191230424-191231450	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:191230347-191231470	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:191230451-191231441	GM12878	blood:	n/a	n/a
5	PBX3	chr2:191230462-191231390	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:191230391-191231385	GM12892	blood:	n/a	n/a
7	STAT5A	chr2:191230450-191231412	GM12878	blood:	n/a	n/a
8	ZNF143	chr2:191230488-191230837	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229465..191231914-chr2:191232411..191236009,3	K562	blood:
2	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201133521	chr2:191230694-191230695	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs56023257	chr2:191230696-191230697	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55691603	chr2:191230698-191230699	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28571104	chr2:191230704-191230705	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28444315	chr2:191230709-191230710	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
6	rs28584102	chr2:191230716-191230717	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374433669	chr2:191230718-191230719	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28624159	chr2:191230720-191230721	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111509720	chr2:191230725-191230726	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12616549	chr2:191230727-191230728	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs55728050	chr2:191230731-191230732	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370688709	chr2:191230732-191230733	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs111214805	chr2:191230737-191230738	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:191219600-191243800	Weak transcription	Gastric	stomach
4	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
5	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
6	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:191225000-191232000	Weak transcription	Ovary	ovary
8	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
9	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
10	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
12	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
14	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
15	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
16	chr2:191225200-191231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:191225200-191231000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:191225200-191231800	Weak transcription	HSMMtube	muscle
19	chr2:191225200-191232000	Weak transcription	HepG2	liver
20	chr2:191225200-191232000	Weak transcription	Osteobl	bone
21	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:191225200-191233800	Weak transcription	NHLF	lung
24	chr2:191225200-191234400	Weak transcription	K562	blood
25	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
30	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
32	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:191225200-191236600	Weak transcription	NH-A	brain
36	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
38	chr2:191225200-191237000	Weak transcription	HMEC	breast
39	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:191225200-191238200	Weak transcription	NHEK	skin
42	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
43	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
44	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:191225400-191231200	Weak transcription	Fetal Lung	lung
46	chr2:191225400-191232200	Weak transcription	Primary B cells from cord blood	blood
47	chr2:191225400-191236200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:191225400-191237200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:191225400-191239200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:191225600-191231000	Weak transcription	Brain Angular Gyrus	brain

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