Variant report

Variant	esv3503402
Chromosome Location	chr1:247291479-247294027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
2	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
3	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
4	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
5	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
6	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
7	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140038818	chr1:247291481-247291482	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539315379	chr1:247291541-247291542	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528690088	chr1:247291551-247291552	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545154461	chr1:247291564-247291565	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201948959	chr1:247291589-247291590	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199683151	chr1:247291609-247291610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565063078	chr1:247291642-247291643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530879398	chr1:247291716-247291717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550595799	chr1:247291718-247291719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560927034	chr1:247291817-247291818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367658964	chr1:247291857-247291858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142052198	chr1:247291913-247291914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs187385471	chr1:247291918-247291919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193157685	chr1:247291920-247291921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576314402	chr1:247291923-247291924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566711162	chr1:247291931-247291932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538478452	chr1:247291941-247291942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552366436	chr1:247291979-247291980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112558790	chr1:247292046-247292047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569004218	chr1:247292053-247292054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200880362	chr1:247292074-247292075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111745826	chr1:247292078-247292079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574340335	chr1:247292130-247292131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533743846	chr1:247292131-247292132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543049131	chr1:247292137-247292138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573457103	chr1:247292138-247292139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374447216	chr1:247292141-247292142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182859616	chr1:247292145-247292146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545215918	chr1:247292159-247292160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113287884	chr1:247292163-247292164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575362045	chr1:247292179-247292180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149946841	chr1:247292180-247292181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55728370	chr1:247292225-247292226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561375498	chr1:247292236-247292237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75469198	chr1:247292242-247292243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75740657	chr1:247292304-247292305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150647987	chr1:247292325-247292326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375449839	chr1:247292348-247292349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370150348	chr1:247292365-247292366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372228375	chr1:247292410-247292411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71638381	chr1:247292427-247292428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76058275	chr1:247292472-247292473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368770549	chr1:247292489-247292490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140530612	chr1:247292534-247292535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112673083	chr1:247292551-247292552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71640399	chr1:247292596-247292597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71640398	chr1:247292613-247292614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376840035	chr1:247292658-247292659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113465095	chr1:247292720-247292721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113173410	chr1:247292737-247292738	Weak 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:170 , 50 per page) page: 1 2 3 4

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	chr1:247290800-247291600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:247290800-247291600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:247290800-247291600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:247290800-247291600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:247290800-247291600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:247290800-247291600	Active TSS	Brain Germinal Matrix	brain
11	chr1:247290800-247291600	Active TSS	Fetal Thymus	thymus
12	chr1:247290800-247291600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:247290800-247291600	Active TSS	Thymus	Thymus
14	chr1:247291000-247291600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:247291000-247291600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:247291000-247291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:247291000-247291600	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:247291000-247291600	Active TSS	Primary T cells from cord blood	blood
19	chr1:247291000-247291600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:247291000-247291600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:247291000-247291600	Active TSS	Colonic Mucosa	Colon
22	chr1:247291000-247291600	Enhancers	Fetal Intestine Large	intestine
23	chr1:247291000-247291600	Active TSS	Fetal Muscle Leg	muscle
24	chr1:247291000-247291600	Flanking Active TSS	Dnd41	blood
25	chr1:247291000-247291600	Active TSS	GM12878-XiMat	blood
26	chr1:247291000-247291600	Active TSS	NHEK	skin
27	chr1:247291200-247291600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:247291200-247291600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:247291200-247291600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:247291200-247291600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:247291200-247291600	Active TSS	Brain Angular Gyrus	brain
32	chr1:247291200-247291600	Enhancers	Small Intestine	intestine
33	chr1:247291200-247291600	Enhancers	Stomach Mucosa	stomach
34	chr1:247291200-247293600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:247291200-247294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:247291200-247294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:247291400-247291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:247291400-247291600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:247291400-247291600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:247291400-247291600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:247291400-247291600	Enhancers	Adipose Nuclei	Adipose
42	chr1:247291400-247291600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr1:247291400-247291600	Enhancers	Hela-S3	cervix
44	chr1:247291400-247291600	Flanking Active TSS	HepG2	liver
45	chr1:247291400-247291600	Flanking Active TSS	HSMMtube	muscle
46	chr1:247291400-247291600	Flanking Active TSS	HUVEC	blood vessel
47	chr1:247291400-247291600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:247291400-247293200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:247291400-247293200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:247291400-247293200	Weak transcription	Fetal Brain Female	brain

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