Variant report

Variant	rs4671562
Chromosome Location	chr2:64558492-64558493
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64557728..64558642-chr2:65140076..65140613,2	K562	blood:
2	chr2:64557833..64558661-chr2:64813793..64814789,3	MCF-7	breast:
3	chr2:64557634..64558668-chr2:64714284..64715769,8	K562	blood:
4	chr2:64557054..64559037-chr2:64562758..64565482,2	MCF-7	breast:
5	chr2:64557742..64558654-chr2:65100302..65100808,2	K562	blood:
6	chr2:64276505..64277378-chr2:64557911..64558603,2	MCF-7	breast:
7	chr2:64558018..64559052-chr2:64714820..64715439,4	MCF-7	breast:
8	chr2:64554284..64556297-chr2:64556572..64559001,2	MCF-7	breast:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10182618	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10203643	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10865345	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11673882	0.83[ASN][1000 genomes]
rs11682772	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11683866	0.82[ASN][1000 genomes]
rs1365474	0.84[ASN][1000 genomes]
rs1365475	0.83[ASN][1000 genomes]
rs1365476	0.82[ASN][1000 genomes]
rs1426699	0.82[ASN][1000 genomes]
rs1426701	0.82[ASN][1000 genomes]
rs1426702	0.81[ASN][1000 genomes]
rs1426703	0.83[ASN][1000 genomes]
rs2059630	0.82[ASN][1000 genomes]
rs2162380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278183	0.82[ASN][1000 genomes]
rs4343453	0.81[EUR][1000 genomes]
rs4671086	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671561	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671563	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7565077	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585084	0.83[ASN][1000 genomes]
rs919122	0.83[ASN][1000 genomes]
rs919126	0.83[ASN][1000 genomes]
rs9917300	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64554600-64559400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:64555600-64558800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr2:64556400-64558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64556400-64559400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:64556800-64559200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:64556800-64559400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:64556800-64559800	Enhancers	Fetal Intestine Large	intestine
10	chr2:64556800-64559800	Enhancers	Placenta	Placenta
11	chr2:64557000-64558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:64557200-64558600	Enhancers	Fetal Brain Male	brain
13	chr2:64557200-64558800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:64557400-64559400	Enhancers	Fetal Kidney	kidney
15	chr2:64557600-64558600	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr2:64557600-64558800	Enhancers	Fetal Thymus	thymus
17	chr2:64557800-64558600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:64557800-64558600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:64557800-64559000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:64557800-64559000	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:64557800-64559600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:64557800-64559800	Enhancers	Fetal Intestine Small	intestine
23	chr2:64558000-64558600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:64558000-64558600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:64558000-64558600	Enhancers	Brain Angular Gyrus	brain
26	chr2:64558000-64558600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:64558000-64558800	Enhancers	Right Ventricle	heart
28	chr2:64558000-64559200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:64558000-64559400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:64558000-64559600	Enhancers	Liver	Liver
31	chr2:64558200-64558600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:64558200-64558600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:64558200-64558600	Enhancers	Ovary	ovary
34	chr2:64558200-64558600	Enhancers	Hela-S3	cervix
35	chr2:64558200-64558600	Enhancers	NHDF-Ad	bronchial
36	chr2:64558200-64558600	Enhancers	NHEK	skin
37	chr2:64558200-64558600	Enhancers	Osteobl	bone
38	chr2:64558200-64558800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:64558200-64558800	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:64558200-64558800	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:64558200-64558800	Enhancers	Right Atrium	heart
42	chr2:64558200-64559000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:64558200-64559000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:64558200-64559200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:64558200-64559400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:64558200-64559400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:64558200-64559400	Enhancers	Fetal Stomach	stomach
48	chr2:64558200-64559400	Enhancers	HSMMtube	muscle
49	chr2:64558200-64559600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:64558200-64559600	Enhancers	Fetal Lung	lung

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