Variant report

Variant	esv2335854
Chromosome Location	chr1:247490861-247491316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
2	chr1:247456296..247458047-chr1:247490288..247491803,2	K562	blood:
3	chr1:247367024..247369929-chr1:247491044..247493190,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162714	chromatin interactions
ENSG00000252516	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562641732	chr1:247490869-247490870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377453370	chr1:247490964-247490965	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116727378	chr1:247490978-247490979	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551520751	chr1:247491006-247491007	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567058381	chr1:247491023-247491024	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538437558	chr1:247491041-247491042	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112396348	chr1:247491064-247491065	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200283600	chr1:247491070-247491071	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201235971	chr1:247491075-247491076	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs386641839	chr1:247491081-247491082	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200419992	chr1:247491082-247491083	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201229138	chr1:247491111-247491112	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368912366	chr1:247491112-247491113	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10924987	chr1:247491143-247491144	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs111712159	chr1:247491149-247491150	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544110765	chr1:247491152-247491153	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186099455	chr1:247491154-247491155	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190074674	chr1:247491160-247491161	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182722406	chr1:247491161-247491162	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540085724	chr1:247491182-247491183	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4925535	chr1:247491277-247491278	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149404448	chr1:247491287-247491288	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
9	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
11	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
13	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
15	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
16	chr1:247476600-247491400	Strong transcription	Dnd41	blood
17	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
20	chr1:247482000-247492600	Strong transcription	Liver	Liver
21	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:247482600-247493400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:247482600-247493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:247482800-247492400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:247482800-247493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:247482800-247493400	Strong transcription	A549	lung
27	chr1:247482800-247493600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:247483000-247493200	Strong transcription	Brain Germinal Matrix	brain
29	chr1:247483000-247493200	Strong transcription	Fetal Brain Female	brain
30	chr1:247483400-247493000	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:247483400-247493200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:247484600-247493400	Weak transcription	Ovary	ovary
33	chr1:247485600-247491400	Weak transcription	Fetal Brain Male	brain
34	chr1:247485800-247491400	Weak transcription	Fetal Kidney	kidney
35	chr1:247486000-247491800	Weak transcription	Pancreas	Pancrea
36	chr1:247486400-247491400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:247486400-247491400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:247486400-247491800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:247486400-247491800	Weak transcription	Esophagus	oesophagus
40	chr1:247486400-247493400	Strong transcription	NH-A	brain
41	chr1:247486600-247491200	Weak transcription	Colonic Mucosa	Colon
42	chr1:247486600-247491200	Weak transcription	HMEC	breast
43	chr1:247486600-247491400	Weak transcription	Aorta	Aorta
44	chr1:247486600-247491600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:247486600-247491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:247486600-247491800	Weak transcription	Spleen	Spleen
47	chr1:247486800-247491200	Weak transcription	NHLF	lung
48	chr1:247486800-247491600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:247486800-247491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:247486800-247491600	Weak transcription	Right Ventricle	heart

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