Variant report

Variant	rs62344640
Chromosome Location	chr5:14187024-14187025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14172374..14175679-chr5:14185951..14189494,3	MCF-7	breast:
2	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
3	chr5:14186990..14191289-chr5:14196188..14199111,4	MCF-7	breast:
4	chr5:14184247..14187128-chr5:14363897..14366486,2	K562	blood:
5	chr5:14166623..14168657-chr5:14184854..14187549,2	MCF-7	breast:
6	chr5:14143292..14145490-chr5:14185700..14188808,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11958958	0.97[AFR][1000 genomes]
rs152781	0.97[EUR][1000 genomes]
rs245513	0.97[EUR][1000 genomes]
rs26290	0.97[EUR][1000 genomes]
rs26292	0.97[EUR][1000 genomes]
rs27367	0.97[EUR][1000 genomes]
rs27632	0.97[EUR][1000 genomes]
rs27666	0.97[EUR][1000 genomes]
rs33028	0.97[EUR][1000 genomes]
rs33029	0.97[EUR][1000 genomes]
rs33030	0.92[EUR][1000 genomes]
rs42289	0.97[EUR][1000 genomes]
rs62346562	0.97[EUR][1000 genomes]
rs696289	0.91[EUR][1000 genomes]
rs696290	0.85[EUR][1000 genomes]
rs73055592	0.99[AFR][1000 genomes]
rs73055595	0.99[AFR][1000 genomes]
rs73055596	0.99[AFR][1000 genomes]
rs73055600	0.99[AFR][1000 genomes]
rs73055601	0.99[AFR][1000 genomes]
rs73057505	0.99[AFR][1000 genomes]
rs73057508	0.85[AFR][1000 genomes]
rs73057511	0.99[AFR][1000 genomes]
rs73057512	0.99[AFR][1000 genomes]
rs73057521	0.83[AFR][1000 genomes]
rs73057526	0.83[AFR][1000 genomes]
rs73057539	0.83[AFR][1000 genomes]
rs73057554	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:14181000-14187600	Enhancers	HUVEC	blood vessel
6	chr5:14181200-14189200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:14181400-14187600	Enhancers	Fetal Muscle Leg	muscle
8	chr5:14181400-14188600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:14181400-14189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
11	chr5:14181600-14189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:14182000-14190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:14182200-14187200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:14182400-14187200	Enhancers	Brain Anterior Caudate	brain
15	chr5:14182800-14187600	Enhancers	Brain Hippocampus Middle	brain
16	chr5:14182800-14188600	Enhancers	Adipose Nuclei	Adipose
17	chr5:14183000-14187200	Enhancers	Psoas Muscle	Psoas
18	chr5:14183000-14187400	Enhancers	Right Atrium	heart
19	chr5:14183000-14187600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:14183000-14189200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:14184000-14191400	Weak transcription	Fetal Intestine Large	intestine
23	chr5:14184400-14187200	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:14184400-14187600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:14184400-14190000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:14184600-14187200	Enhancers	Ovary	ovary
28	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:14184800-14187400	Enhancers	GM12878-XiMat	blood
30	chr5:14184800-14188400	Enhancers	Colon Smooth Muscle	Colon
31	chr5:14185000-14187200	Flanking Active TSS	HSMM	muscle
32	chr5:14185000-14190000	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:14185400-14187200	Enhancers	Spleen	Spleen
34	chr5:14185400-14187400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:14185400-14188400	Flanking Active TSS	NHEK	skin
36	chr5:14185600-14187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:14185600-14187600	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:14185600-14194200	Enhancers	NHDF-Ad	bronchial
39	chr5:14185800-14187600	Enhancers	Liver	Liver
40	chr5:14185800-14187800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:14185800-14188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:14185800-14189600	Weak transcription	Aorta	Aorta
43	chr5:14185800-14189800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:14185800-14189800	Weak transcription	Lung	lung
45	chr5:14185800-14190000	Weak transcription	Pancreas	Pancrea
46	chr5:14185800-14190800	Enhancers	HSMMtube	muscle
47	chr5:14186000-14187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:14186000-14187400	Enhancers	Small Intestine	intestine
49	chr5:14186000-14188400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:14186000-14189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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