Variant report

Variant	esv1814795
Chromosome Location	chr1:247292244-247305873
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247094086..247096067-chr1:247294057..247295936,2	MCF-7	breast:
2	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
3	chr1:247267372..247270234-chr1:247298107..247300511,2	MCF-7	breast:
4	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
5	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
6	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
7	chr1:247305778..247307279-chr20:47900377..47902023,2	K562	blood:
8	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
9	chr1:247265068..247267248-chr1:247305560..247307197,2	MCF-7	breast:
10	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
11	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
12	chr1:247303809..247306920-chr1:247310014..247313822,3	MCF-7	breast:
13	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:
14	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
15	chr1:247305865..247308781-chr1:247312082..247316125,4	K562	blood:
16	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf229-2	chr1:247302018-247302059	NONHSAT010753
2	lnc-C1orf229-2	chr1:247303567-247304646	NONHSAT010755

No data

Variant related genes	Relation type
ENSG00000153207	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000196418	chromatin interactions

Extended variants
information (count: 524 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75740657	chr1:247292304-247292305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150647987	chr1:247292325-247292326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375449839	chr1:247292348-247292349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370150348	chr1:247292365-247292366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372228375	chr1:247292410-247292411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71638381	chr1:247292427-247292428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76058275	chr1:247292472-247292473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368770549	chr1:247292489-247292490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140530612	chr1:247292534-247292535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112673083	chr1:247292551-247292552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71640399	chr1:247292596-247292597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71640398	chr1:247292613-247292614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376840035	chr1:247292658-247292659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113465095	chr1:247292720-247292721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113173410	chr1:247292737-247292738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534834285	chr1:247292906-247292907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373699978	chr1:247292923-247292924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376702024	chr1:247292968-247292969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12740767	chr1:247292985-247292986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544230803	chr1:247293030-247293031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371609927	chr1:247293047-247293048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11804033	chr1:247293092-247293093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112881373	chr1:247293109-247293110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111847842	chr1:247293154-247293155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370158211	chr1:247293170-247293171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12741372	chr1:247293171-247293172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546944512	chr1:247293189-247293190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112325852	chr1:247293216-247293217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112450311	chr1:247293233-247293234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6687323	chr1:247293278-247293279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527902053	chr1:247293281-247293282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145737779	chr1:247293295-247293296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138304746	chr1:247293298-247293299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537978096	chr1:247293339-247293340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548314064	chr1:247293343-247293344	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115460412	chr1:247293362-247293363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112479258	chr1:247293363-247293364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532076442	chr1:247293368-247293369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143247869	chr1:247293384-247293385	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192263862	chr1:247293385-247293386	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573493518	chr1:247293472-247293473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183729845	chr1:247293474-247293475	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189323406	chr1:247293488-247293489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192674526	chr1:247293491-247293492	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113265351	chr1:247293532-247293533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116349857	chr1:247293557-247293558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148289634	chr1:247293635-247293636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549868838	chr1:247293665-247293666	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184732392	chr1:247293678-247293679	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540302748	chr1:247293723-247293724	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:247289200-247293200	Weak transcription	A549	lung
3	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:247289400-247293600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:247291200-247293600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:247291200-247294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:247291200-247294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:247291400-247293200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:247291400-247293200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:247291400-247293200	Weak transcription	Fetal Brain Female	brain
11	chr1:247291400-247293200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:247291400-247293400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:247291400-247293400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:247291400-247293400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:247291400-247293400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:247291400-247293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:247291400-247293600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:247291400-247293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:247291400-247293600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:247291400-247293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:247291400-247293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:247291400-247293600	Weak transcription	Fetal Kidney	kidney
23	chr1:247291400-247294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:247291400-247294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:247291400-247294200	Weak transcription	Fetal Stomach	stomach
26	chr1:247291400-247294400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:247291400-247294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:247291400-247294400	Weak transcription	Primary B cells from cord blood	blood
29	chr1:247291400-247294400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:247291400-247294400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:247291400-247294600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:247291400-247294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:247291400-247294800	Weak transcription	Fetal Lung	lung
34	chr1:247291400-247294800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:247291400-247295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:247291400-247295200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:247291400-247297800	Weak transcription	Psoas Muscle	Psoas
38	chr1:247291600-247293200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:247291600-247293200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:247291600-247293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:247291600-247293200	Weak transcription	Brain Germinal Matrix	brain
42	chr1:247291600-247293200	Weak transcription	GM12878-XiMat	blood
43	chr1:247291600-247293400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:247291600-247293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:247291600-247293400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:247291600-247293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:247291600-247293400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:247291600-247293400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:247291600-247293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:247291600-247293400	Weak transcription	Adipose Nuclei	Adipose

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