Variant report

Variant	esv3365672
Chromosome Location	chr1:247291329-247294327
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
2	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
3	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
4	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
5	chr1:247094086..247096067-chr1:247294057..247295936,2	MCF-7	breast:
6	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
7	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
8	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
9	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
10	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196418	chromatin interactions
ENSG00000153207	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61854860	chr1:247291353-247291354	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201403561	chr1:247291355-247291356	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs67341083	chr1:247291356-247291357	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554587559	chr1:247291368-247291369	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376065859	chr1:247291374-247291375	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370739987	chr1:247291375-247291376	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199826129	chr1:247291396-247291397	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12403156	chr1:247291400-247291401	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs374482175	chr1:247291416-247291417	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571933262	chr1:247291465-247291466	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140038818	chr1:247291481-247291482	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539315379	chr1:247291541-247291542	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528690088	chr1:247291551-247291552	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545154461	chr1:247291564-247291565	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201948959	chr1:247291589-247291590	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199683151	chr1:247291609-247291610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565063078	chr1:247291642-247291643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530879398	chr1:247291716-247291717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550595799	chr1:247291718-247291719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560927034	chr1:247291817-247291818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367658964	chr1:247291857-247291858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142052198	chr1:247291913-247291914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs187385471	chr1:247291918-247291919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193157685	chr1:247291920-247291921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576314402	chr1:247291923-247291924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566711162	chr1:247291931-247291932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538478452	chr1:247291941-247291942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552366436	chr1:247291979-247291980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112558790	chr1:247292046-247292047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569004218	chr1:247292053-247292054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200880362	chr1:247292074-247292075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111745826	chr1:247292078-247292079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574340335	chr1:247292130-247292131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533743846	chr1:247292131-247292132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543049131	chr1:247292137-247292138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573457103	chr1:247292138-247292139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374447216	chr1:247292141-247292142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182859616	chr1:247292145-247292146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545215918	chr1:247292159-247292160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113287884	chr1:247292163-247292164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575362045	chr1:247292179-247292180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149946841	chr1:247292180-247292181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55728370	chr1:247292225-247292226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561375498	chr1:247292236-247292237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75469198	chr1:247292242-247292243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75740657	chr1:247292304-247292305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150647987	chr1:247292325-247292326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375449839	chr1:247292348-247292349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370150348	chr1:247292365-247292366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372228375	chr1:247292410-247292411	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:228 , 50 per page) page: 1 2 3 4 5

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	chr1:247290800-247291400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:247290800-247291400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:247290800-247291400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:247290800-247291400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:247290800-247291400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:247290800-247291400	Active TSS	Fetal Muscle Trunk	muscle
11	chr1:247290800-247291600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:247290800-247291600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:247290800-247291600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:247290800-247291600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:247290800-247291600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:247290800-247291600	Active TSS	Brain Germinal Matrix	brain
17	chr1:247290800-247291600	Active TSS	Fetal Thymus	thymus
18	chr1:247290800-247291600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:247290800-247291600	Active TSS	Thymus	Thymus
20	chr1:247291000-247291400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:247291000-247291400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:247291000-247291400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:247291000-247291400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:247291000-247291400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr1:247291000-247291400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:247291000-247291400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:247291000-247291400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:247291000-247291400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:247291000-247291400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:247291000-247291400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:247291000-247291400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:247291000-247291400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:247291000-247291400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:247291000-247291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:247291000-247291400	Enhancers	Fetal Lung	lung
36	chr1:247291000-247291400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:247291000-247291400	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:247291000-247291400	Active TSS	HepG2	liver
39	chr1:247291000-247291400	Active TSS	HSMMtube	muscle
40	chr1:247291000-247291400	Active TSS	HUVEC	blood vessel
41	chr1:247291000-247291400	Flanking Active TSS	K562	blood
42	chr1:247291000-247291400	Active TSS	NHDF-Ad	bronchial
43	chr1:247291000-247291400	Active TSS	NHLF	lung
44	chr1:247291000-247291600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:247291000-247291600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:247291000-247291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:247291000-247291600	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:247291000-247291600	Active TSS	Primary T cells from cord blood	blood
49	chr1:247291000-247291600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:247291000-247291600	Active TSS	Muscle Satellite Cultured Cells	--

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