Variant report

Variant	esv3406056
Chromosome Location	chr2:10137626-10140049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10136192..10137782-chr2:10138431..10140040,2	MCF-7	breast:
2	chr2:10135218..10139149-chr2:10182379..10185639,3	K562	blood:
3	chr2:10134177..10136328-chr2:10137222..10139512,2	K562	blood:
4	chr2:10134738..10137114-chr2:10139219..10141923,2	K562	blood:
5	chr2:10105907..10108756-chr2:10136707..10139458,2	K562	blood:
6	chr2:10136192..10137782-chr2:10138431..10140040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134317	chromatin interactions
ENSG00000172059	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548768930	chr2:10137673-10137674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568522070	chr2:10137747-10137748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112430508	chr2:10137779-10137780	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375381665	chr2:10137807-10137808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369739525	chr2:10137808-10137809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373202696	chr2:10137810-10137811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376301716	chr2:10137812-10137813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369310748	chr2:10137820-10137821	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373321238	chr2:10137831-10137832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552584455	chr2:10137843-10137844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557465059	chr2:10137888-10137889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570938849	chr2:10137897-10137898	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539879004	chr2:10137907-10137908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150171875	chr2:10137947-10137948	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373119856	chr2:10137960-10137961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184699638	chr2:10137985-10137986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117621375	chr2:10138012-10138013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143372283	chr2:10138047-10138048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569489545	chr2:10138049-10138050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs16867278	chr2:10138099-10138100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575316626	chr2:10138161-10138162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543980970	chr2:10138175-10138176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2116017	chr2:10138209-10138210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532854938	chr2:10138233-10138234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2099204	chr2:10138238-10138239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559848650	chr2:10138338-10138339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568140594	chr2:10138357-10138358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548568966	chr2:10138441-10138442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534008207	chr2:10138454-10138455	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531159608	chr2:10138455-10138456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551183381	chr2:10138488-10138489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571002091	chr2:10138518-10138519	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539891548	chr2:10138519-10138520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs116722999	chr2:10138541-10138542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs138985666	chr2:10138551-10138552	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373392159	chr2:10138552-10138553	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6146621	chr2:10138578-10138579	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555400866	chr2:10138580-10138581	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575479574	chr2:10138582-10138583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199543235	chr2:10138583-10138584	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572944347	chr2:10138585-10138586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12992309	chr2:10138587-10138588	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377109216	chr2:10138588-10138589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577322134	chr2:10138592-10138593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374997360	chr2:10138598-10138599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539902477	chr2:10138607-10138608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369694093	chr2:10138609-10138610	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560110271	chr2:10138610-10138611	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373084434	chr2:10138620-10138621	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112470090	chr2:10138622-10138623	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:10124400-10139200	Weak transcription	Gastric	stomach
5	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:10125000-10147600	Weak transcription	K562	blood
9	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
10	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
12	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:10126200-10139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:10126400-10141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:10128000-10142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:10128600-10140800	Weak transcription	Fetal Brain Male	brain
19	chr2:10130000-10142000	Strong transcription	HepG2	liver
20	chr2:10130800-10138600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:10131600-10141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:10132200-10145200	Weak transcription	Fetal Intestine Large	intestine
24	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:10132400-10146400	Weak transcription	Left Ventricle	heart
26	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:10133200-10146400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:10133400-10144200	Strong transcription	Esophagus	oesophagus
29	chr2:10134000-10145600	Weak transcription	Fetal Kidney	kidney
30	chr2:10134000-10145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:10134200-10142000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
33	chr2:10134400-10138400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:10134400-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:10135000-10139200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:10135200-10140800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:10135400-10139200	Weak transcription	Right Atrium	heart
39	chr2:10135400-10146400	Weak transcription	HUVEC	blood vessel
40	chr2:10135600-10138400	Strong transcription	Liver	Liver
41	chr2:10135800-10139800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:10136000-10144600	Weak transcription	Spleen	Spleen
43	chr2:10136600-10139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:10137000-10141400	Strong transcription	Fetal Intestine Small	intestine
45	chr2:10137000-10148000	Weak transcription	Hela-S3	cervix
46	chr2:10137200-10138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:10137200-10138400	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:10137200-10142200	Weak transcription	Dnd41	blood
49	chr2:10137200-10144600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:10137200-10146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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