Variant report

Variant	rs62290595
Chromosome Location	chr4:15669114-15669115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15667185..15670762-chr4:15673659..15675755,3	K562	blood:
2	chr4:15668976..15670549-chr4:15675107..15677746,2	MCF-7	breast:
3	chr4:15652202..15654659-chr4:15668639..15670937,2	MCF-7	breast:
4	chr4:15653293..15659319-chr4:15668815..15673574,11	MCF-7	breast:
5	chr4:15664444..15667043-chr4:15668246..15669921,2	K562	blood:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10001565	0.86[ASN][1000 genomes]
rs10516289	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730336	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735063	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12643475	0.86[ASN][1000 genomes]
rs12650632	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406128	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532698	0.86[ASN][1000 genomes]
rs34910084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4301112	0.92[ASN][1000 genomes]
rs56089642	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62290586	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290588	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290591	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290593	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239201	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9942212	0.84[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3361772	chr4:15666732-15684418	Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15657600-15681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:15658000-15672200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:15658000-15673800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:15658000-15675200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:15658000-15679000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:15658000-15681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:15658200-15670600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:15658200-15679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:15658200-15679200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:15658200-15682200	Weak transcription	Fetal Stomach	stomach
11	chr4:15658600-15673000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:15658600-15679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:15659800-15678600	Weak transcription	K562	blood
14	chr4:15660200-15670600	Weak transcription	Fetal Lung	lung
15	chr4:15660400-15679200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:15661600-15678600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:15662400-15678800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:15664800-15681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:15666600-15669400	Enhancers	HUVEC	blood vessel
20	chr4:15666800-15669600	Strong transcription	Thymus	Thymus
21	chr4:15666800-15670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:15667000-15670600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:15667200-15669400	Strong transcription	Fetal Thymus	thymus
24	chr4:15667400-15669800	Strong transcription	GM12878-XiMat	blood
25	chr4:15667400-15670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:15667400-15675200	Weak transcription	Fetal Intestine Large	intestine
27	chr4:15667600-15669400	Enhancers	Primary B cells from cord blood	blood
28	chr4:15667800-15669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:15667800-15670000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:15667800-15673800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:15668000-15669600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:15668000-15669600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:15668000-15670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:15668000-15676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:15668200-15669200	Strong transcription	NHDF-Ad	bronchial
36	chr4:15668200-15669400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:15668200-15669400	Strong transcription	Osteobl	bone
38	chr4:15668200-15669600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:15668200-15670800	Weak transcription	HSMMtube	muscle
40	chr4:15668200-15672600	Weak transcription	Placenta	Placenta
41	chr4:15668200-15678600	Weak transcription	NHLF	lung
42	chr4:15668400-15669200	Strong transcription	A549	lung
43	chr4:15668400-15669400	Weak transcription	Left Ventricle	heart
44	chr4:15668400-15669400	Strong transcription	Dnd41	blood
45	chr4:15668400-15669400	Strong transcription	NH-A	brain
46	chr4:15668400-15669600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:15668400-15670000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:15668400-15670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:15668400-15679000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:15668400-15682800	Weak transcription	Fetal Brain Male	brain

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