Variant report

Variant	esv3380481
Chromosome Location	chr12:122260219-122262417
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	chr12:122260634..122262988-chr12:122263778..122265439,3	K562	blood:
2	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:
3	chr12:122259672..122261215-chr12:122262600..122265504,2	MCF-7	breast:
4	chr12:122261003..122262555-chr12:122266900..122268713,2	MCF-7	breast:
5	chr12:122260627..122261691-chr12:122325871..122327058,7	MCF-7	breast:
6	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:
7	chr12:122260091..122262315-chr12:122326124..122328233,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110801	chromatin interactions
ENSG00000256950	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571127410	chr12:122260296-122260297	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559624920	chr12:122260341-122260342	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570009974	chr12:122260348-122260349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537553639	chr12:122260349-122260350	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556820429	chr12:122260350-122260351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187887537	chr12:122260380-122260381	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535807840	chr12:122260402-122260403	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554437974	chr12:122260417-122260418	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35015491	chr12:122260425-122260426	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146687724	chr12:122260428-122260429	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540228427	chr12:122260445-122260446	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558089040	chr12:122260451-122260452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374833102	chr12:122260462-122260463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200584720	chr12:122260463-122260464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372668133	chr12:122260479-122260480	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543874326	chr12:122260486-122260487	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371971255	chr12:122260498-122260499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375852395	chr12:122260503-122260504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370158114	chr12:122260509-122260510	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201434489	chr12:122260531-122260532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192950528	chr12:122260540-122260541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs114351527	chr12:122260547-122260548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs58801491	chr12:122260549-122260550	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374510760	chr12:122260562-122260563	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371957104	chr12:122260568-122260569	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552559343	chr12:122260620-122260621	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200348800	chr12:122260635-122260636	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140259604	chr12:122260638-122260639	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572732758	chr12:122260682-122260683	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550283601	chr12:122260687-122260688	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568711666	chr12:122260697-122260698	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536045799	chr12:122260698-122260699	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201048316	chr12:122260728-122260729	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554027628	chr12:122260790-122260791	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs115917759	chr12:122260805-122260806	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371894952	chr12:122260824-122260825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539708994	chr12:122260842-122260843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558152308	chr12:122260848-122260849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150294509	chr12:122260849-122260850	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543934117	chr12:122260850-122260851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555827998	chr12:122260856-122260857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574590466	chr12:122260874-122260875	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542008950	chr12:122260879-122260880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144871159	chr12:122260947-122260948	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs527607402	chr12:122261000-122261001	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546100995	chr12:122261042-122261043	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564509838	chr12:122261047-122261048	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531727822	chr12:122261098-122261099	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185025697	chr12:122261133-122261134	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200570124	chr12:122261163-122261164	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Urothelial carcinoma	21177765	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
Breast cancer	22522925	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122251200-122262000	Strong transcription	GM12878-XiMat	blood
7	chr12:122251200-122266800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
10	chr12:122251400-122262800	Strong transcription	NH-A	brain
11	chr12:122251400-122263000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122251400-122263000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:122251400-122266600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:122251600-122262200	Strong transcription	Rectal Smooth Muscle	rectum
16	chr12:122251600-122263200	Strong transcription	Brain Anterior Caudate	brain
17	chr12:122251600-122266200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
19	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr12:122251600-122270400	Strong transcription	NHLF	lung
21	chr12:122251600-122270400	Strong transcription	Osteobl	bone
22	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
24	chr12:122251800-122262200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122251800-122262200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:122251800-122262400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122251800-122262400	Strong transcription	A549	lung
28	chr12:122251800-122262800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:122251800-122262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:122251800-122266400	Strong transcription	Brain Germinal Matrix	brain
31	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
36	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
37	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:122251800-122270800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:122252000-122261600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:122252000-122262400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr12:122252000-122262400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:122252000-122262400	Strong transcription	NHEK	skin
44	chr12:122252000-122262600	Strong transcription	Left Ventricle	heart
45	chr12:122252000-122262600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr12:122252000-122263000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:122252000-122263200	Strong transcription	Adipose Nuclei	Adipose
48	chr12:122252000-122266600	Weak transcription	Fetal Heart	heart
49	chr12:122252000-122267200	Strong transcription	Brain Hippocampus Middle	brain
50	chr12:122252000-122267400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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