Variant report

Variant	esv3431822
Chromosome Location	chr12:122623390-122623768
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122492842..122494404-chr12:122622971..122625233,2	K562	blood:
2	chr12:122617007..122620104-chr12:122620256..122623523,4	MCF-7	breast:
3	chr12:122623410..122625195-chr12:122629931..122632295,2	K562	blood:
4	chr12:122622146..122623768-chr12:122624080..122626451,2	K562	blood:
5	chr12:122622900..122624989-chr12:122626471..122629379,3	K562	blood:
6	chr12:122623695..122625503-chr12:122629931..122631877,2	K562	blood:
7	chr12:122614209..122616378-chr12:122622721..122625197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175727	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371090511	chr12:122623398-122623399	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374468907	chr12:122623409-122623410	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368364894	chr12:122623413-122623414	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565971983	chr12:122623422-122623423	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181604872	chr12:122623439-122623440	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371788361	chr12:122623440-122623441	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376475657	chr12:122623446-122623447	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368188489	chr12:122623515-122623516	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372026364	chr12:122623522-122623523	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74844416	chr12:122623534-122623535	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576596216	chr12:122623555-122623556	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9668430	chr12:122623595-122623596	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs555852105	chr12:122623596-122623597	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186272768	chr12:122623623-122623624	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541427603	chr12:122623629-122623630	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559787782	chr12:122623634-122623635	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376851747	chr12:122623644-122623645	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61952926	chr12:122623645-122623646	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545173108	chr12:122623653-122623654	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563572661	chr12:122623677-122623678	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538292757	chr12:122623686-122623687	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
3	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
4	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
5	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
10	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
12	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:122611200-122630400	Strong transcription	Gastric	stomach
14	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
15	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:122611800-122624200	Strong transcription	Fetal Intestine Large	intestine
21	chr12:122611800-122624200	Strong transcription	Dnd41	blood
22	chr12:122611800-122624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:122611800-122626400	Strong transcription	Spleen	Spleen
24	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung
26	chr12:122611800-122628800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr12:122611800-122629000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:122611800-122629400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:122612000-122628600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:122612000-122628800	Strong transcription	Fetal Brain Female	brain
31	chr12:122612000-122629400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
33	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
35	chr12:122612200-122627400	Strong transcription	Right Ventricle	heart
36	chr12:122612200-122628800	Strong transcription	Adipose Nuclei	Adipose
37	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:122613400-122628800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:122614400-122625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122615000-122626200	Strong transcription	Lung	lung
41	chr12:122615000-122628000	Weak transcription	NHDF-Ad	bronchial
42	chr12:122615400-122626200	Weak transcription	Fetal Kidney	kidney
43	chr12:122615600-122630600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122615800-122625600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:122615800-122630800	Weak transcription	Hela-S3	cervix
46	chr12:122616000-122623800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:122616000-122628400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:122616000-122629200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr12:122616000-122631600	Weak transcription	Fetal Brain Male	brain
50	chr12:122616200-122632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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