Variant report

Variant	esv1009804
Chromosome Location	chr2:47193130-47196785
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47192520..47194152-chr2:47197519..47201107,3	K562	blood:
2	chr2:47166867..47170590-chr2:47194468..47200247,20	MCF-7	breast:
3	chr2:47194472..47196362-chr2:47425821..47428121,3	MCF-7	breast:
4	chr2:47196446..47198984-chr2:47567520..47569154,2	MCF-7	breast:
5	chr2:47193634..47195706-chr2:47417970..47421057,3	MCF-7	breast:
6	chr2:47187408..47189376-chr2:47192162..47193765,2	K562	blood:
7	chr2:47193547..47196225-chr2:47402944..47405223,2	K562	blood:
8	chr2:47195860..47200774-chr2:47207735..47210386,4	K562	blood:
9	chr2:11678126..11680963-chr2:47194547..47197041,2	MCF-7	breast:
10	chr2:47194084..47197081-chr2:47210689..47213163,3	MCF-7	breast:
11	chr2:47193547..47196225-chr2:47402944..47405223,3	K562	blood:
12	chr2:47196076..47198728-chr2:47417712..47420454,3	MCF-7	breast:
13	chr2:47187193..47190243-chr2:47190337..47193752,4	MCF-7	breast:
14	chr2:47168073..47168635-chr2:47194598..47195308,2	Hela-S3	cervix:
15	chr2:47182604..47186847-chr2:47193837..47196503,3	K562	blood:
16	chr2:47164600..47167090-chr2:47190950..47193614,2	K562	blood:
17	chr2:47176114..47178035-chr2:47194431..47196256,2	MCF-7	breast:
18	chr2:47192694..47195211-chr2:47401865..47404549,2	MCF-7	breast:
19	chr2:47192215..47193859-chr2:47323314..47325455,2	MCF-7	breast:
20	chr2:47164675..47170526-chr2:47188235..47196918,12	MCF-7	breast:
21	chr2:47187033..47189469-chr2:47193836..47195878,3	K562	blood:
22	chr2:47191916..47197742-chr2:47401234..47405560,7	MCF-7	breast:
23	chr2:47196068..47199021-chr2:47522197..47525047,2	K562	blood:
24	chr2:47187196..47189575-chr2:47193868..47196024,2	MCF-7	breast:
25	chr2:47194294..47196907-chr2:47548954..47551761,2	MCF-7	breast:
26	chr2:47166769..47171325-chr2:47189456..47193821,11	MCF-7	breast:
27	chr2:47142565..47145149-chr2:47193647..47195451,2	MCF-7	breast:
28	chr2:47195345..47199186-chr2:47202255..47204268,3	MCF-7	breast:
29	chr2:47194544..47196937-chr2:47423756..47426631,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions
ENSG00000196208	chromatin interactions
ENSG00000272814	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000180398	chromatin interactions
ENSG00000264010	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559883564	chr2:47193151-47193152	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs530347078	chr2:47193161-47193162	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542082113	chr2:47193168-47193169	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560559958	chr2:47193181-47193182	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531160226	chr2:47193182-47193183	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs57638429	chr2:47193236-47193237	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571293796	chr2:47193237-47193238	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs147630705	chr2:47193238-47193239	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs374890590	chr2:47193245-47193246	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565852316	chr2:47193298-47193299	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs536568055	chr2:47193316-47193317	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554866204	chr2:47193335-47193336	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188568653	chr2:47193407-47193408	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570069873	chr2:47193433-47193434	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34030157	chr2:47193445-47193446	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs558902792	chr2:47193472-47193473	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59335662	chr2:47193487-47193488	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541486585	chr2:47193543-47193544	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs191816490	chr2:47193553-47193554	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs207461696	chr2:47193610-47193611	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574651981	chr2:47193612-47193613	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114180741	chr2:47193674-47193675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184034093	chr2:47193681-47193682	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563683038	chr2:47193728-47193729	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs199852888	chr2:47193730-47193731	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200960060	chr2:47193731-47193732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187081068	chr2:47193732-47193733	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs397984483	chr2:47193742-47193743	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368494924	chr2:47193779-47193780	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531223348	chr2:47193790-47193791	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs543083964	chr2:47193792-47193793	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534142349	chr2:47193797-47193798	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs550330911	chr2:47193816-47193817	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs372839104	chr2:47193820-47193821	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs375465721	chr2:47193826-47193827	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs142216107	chr2:47193831-47193832	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs532131558	chr2:47193845-47193846	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374922951	chr2:47193923-47193924	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs34299761	chr2:47193930-47193931	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs568906142	chr2:47193931-47193932	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs565894308	chr2:47193963-47193964	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201858114	chr2:47194039-47194040	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529871588	chr2:47194051-47194052	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548401632	chr2:47194054-47194055	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs570006612	chr2:47194077-47194078	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs555814278	chr2:47194078-47194079	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs552318418	chr2:47194079-47194080	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs570789448	chr2:47194101-47194102	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs6745593	chr2:47194112-47194113	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs186893755	chr2:47194213-47194214	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47179200-47195000	Strong transcription	Fetal Thymus	thymus
5	chr2:47179400-47193800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:47183000-47195000	Weak transcription	Small Intestine	intestine
8	chr2:47183400-47193400	Strong transcription	Fetal Intestine Small	intestine
9	chr2:47184200-47194400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:47184600-47197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:47185600-47195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:47185800-47195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:47186000-47194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:47186000-47195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:47186000-47195000	Weak transcription	Left Ventricle	heart
21	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:47186600-47194400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:47186800-47205200	Weak transcription	Gastric	stomach
25	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:47187000-47195000	Weak transcription	Right Ventricle	heart
27	chr2:47187200-47197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
29	chr2:47187600-47194600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:47187800-47194800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:47187800-47195000	Weak transcription	Colonic Mucosa	Colon
32	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:47188000-47194400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:47188000-47194400	Weak transcription	Fetal Lung	lung
36	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:47188200-47196800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:47189000-47193600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:47189800-47194400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:47189800-47195000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:47189800-47195000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:47190000-47194800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:47190000-47195000	Weak transcription	Right Atrium	heart
45	chr2:47190000-47197000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:47190200-47193600	Enhancers	HMEC	breast
47	chr2:47190200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:47190200-47194400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:47190200-47194400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:47190200-47194600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links