Variant report

Variant	esv3458870
Chromosome Location	chr2:190636538-190640342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:190638344-190638443	ProgFib	skin:	n/a	n/a
2	POLR2A	chr2:190639949-190639980	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:190640337-190640514	K562	blood:	n/a	n/a
4	POLR2A	chr2:190639886-190640102	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:190639165-190639430	GM12878	blood:	n/a	n/a
6	TCF7L2	chr2:190636992-190637226	MCF-7	breast:	n/a	chr2:190637113-190637127
7	ZNF217	chr2:190637110-190637310	MCF-7	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190639477..190641367-chr2:190643907..190646225,2	MCF-7	breast:
2	chr2:190634845..190637488-chr2:190645702..190648175,2	K562	blood:
3	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
4	chr2:190626018..190630546-chr2:190631744..190636793,10	K562	blood:
5	chr2:190639322..190641335-chr2:190649271..190651460,2	K562	blood:
6	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
7	chr2:190639387..190641979-chr2:190643481..190646316,2	K562	blood:
8	chr2:190637903..190640151-chr2:190642626..190644540,2	MCF-7	breast:
9	chr2:190634458..190636965-chr2:190638954..190642659,3	MCF-7	breast:
10	chr2:190634458..190636965-chr2:190638954..190642659,3	MCF-7	breast:
11	chr2:190634478..190636645-chr2:190640772..190642999,2	K562	blood:
12	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
13	chr2:190636758..190640017-chr2:190647080..190650145,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC013468.1-1	chr2:190638613-190638743	NONHSAT076069
2	lnc-AC013468.1-1	chr2:190636037-190636628	NONHSAT076069

No data

Variant related genes	Relation type
ORMDL1	TF binding region
ENSG00000253559	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000273240	chromatin interactions
ENSG00000128694	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000231145	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553741875	chr2:190636553-190636554	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs148150815	chr2:190636608-190636609	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs574869435	chr2:190636619-190636620	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs535878468	chr2:190636658-190636659	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs183724255	chr2:190636730-190636731	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs534141853	chr2:190636774-190636775	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs546289404	chr2:190636790-190636791	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs564079276	chr2:190636813-190636814	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs573042305	chr2:190636826-190636827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs540147550	chr2:190636850-190636851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs143356705	chr2:190636907-190636908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs117772852	chr2:190636977-190636978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs550135508	chr2:190636994-190636995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs137860537	chr2:190637010-190637011	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs189577098	chr2:190637012-190637013	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs72543851	chr2:190637035-190637036	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs1866643	chr2:190637036-190637037	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542661130	chr2:190637062-190637063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs551499011	chr2:190637074-190637075	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs570945757	chr2:190637076-190637077	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs535255024	chr2:190637094-190637095	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs16832002	chr2:190637103-190637104	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568741909	chr2:190637136-190637137	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs148356684	chr2:190637187-190637188	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs561296865	chr2:190637421-190637422	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs116661606	chr2:190637450-190637451	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs114023343	chr2:190637462-190637463	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs114648850	chr2:190637471-190637472	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs572938397	chr2:190637528-190637529	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs182058327	chr2:190637605-190637606	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs561571396	chr2:190637638-190637639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs573567310	chr2:190637667-190637668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs544101956	chr2:190637772-190637773	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs112246838	chr2:190637774-190637775	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs539280207	chr2:190637827-190637828	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs562137457	chr2:190637952-190637953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs532982303	chr2:190638007-190638008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs140532522	chr2:190638028-190638029	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs548106797	chr2:190638067-190638068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs144682701	chr2:190638085-190638086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs372779355	chr2:190638222-190638223	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs146214352	chr2:190638281-190638282	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs185470169	chr2:190638321-190638322	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs138554290	chr2:190638380-190638381	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs529566491	chr2:190638414-190638415	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs189798339	chr2:190638422-190638423	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs551285126	chr2:190638448-190638449	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs56366510	chr2:190638462-190638463	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373931997	chr2:190638481-190638482	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377696587	chr2:190638508-190638509	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
5	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
7	chr2:190628200-190642800	Weak transcription	Lung	lung
8	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
9	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
10	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
16	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
17	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
22	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
25	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
26	chr2:190628800-190638000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:190628800-190638600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:190628800-190638800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:190628800-190639200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:190628800-190642800	Weak transcription	Fetal Stomach	stomach
31	chr2:190629000-190638000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:190629000-190638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:190629000-190644200	Weak transcription	Fetal Brain Male	brain
34	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:190629200-190638000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:190629200-190639400	Weak transcription	Hela-S3	cervix
37	chr2:190629400-190637800	Weak transcription	NHLF	lung
38	chr2:190629800-190647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:190630000-190646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:190630800-190647000	Strong transcription	HSMM	muscle
41	chr2:190631000-190637000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:190631000-190646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:190631200-190645400	Strong transcription	Liver	Liver
44	chr2:190631200-190646200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:190631200-190647200	Strong transcription	Fetal Thymus	thymus
46	chr2:190631400-190642200	Strong transcription	NHDF-Ad	bronchial
47	chr2:190631400-190644000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:190631400-190646000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:190631400-190646000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:190631400-190646800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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