Variant report

Variant	rs264526
Chromosome Location	chr5:61630111-61630112
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61622184..61624632-chr5:61629178..61631603,3	K562	blood:
2	chr5:61622009..61624604-chr5:61628091..61630897,2	K562	blood:
3	chr5:61601551..61603315-chr5:61628509..61630396,2	MCF-7	breast:
4	chr5:61601235..61603085-chr5:61628618..61631390,2	K562	blood:
5	chr5:61627722..61630548-chr5:61641622..61644001,2	MCF-7	breast:
6	chr5:61629672..61632580-chr5:61634669..61639677,5	K562	blood:
7	chr5:61617006..61619910-chr5:61629943..61631558,2	K562	blood:
8	chr5:61561395..61563266-chr5:61628626..61630582,2	K562	blood:
9	chr5:61554817..61557688-chr5:61629619..61631265,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10079409	0.91[ASN][1000 genomes]
rs1025032	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10471542	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1054897	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10939936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153750	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519766	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12658256	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16890656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808400	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1848504	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2063256	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2272290	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2463078	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs264522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264525	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs264529	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28720674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs37032	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3842912	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3846468	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3857259	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892140	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4700491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6863617	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864450	0.90[ASN][1000 genomes]
rs6872078	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6884054	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73104056	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73104058	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7729719	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7734679	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9291759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9981	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
2	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
4	chr5:61607800-61669400	Weak transcription	NHLF	lung
5	chr5:61610200-61658600	Weak transcription	Ovary	ovary
6	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:61611600-61639000	Weak transcription	HMEC	breast
8	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
14	chr5:61621600-61631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:61621800-61638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:61622400-61633400	Weak transcription	HUVEC	blood vessel
17	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:61622600-61643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:61623000-61643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:61623800-61643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:61625400-61644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
27	chr5:61626600-61631800	Weak transcription	A549	lung
28	chr5:61626600-61639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:61627000-61630200	Enhancers	Fetal Brain Male	brain
30	chr5:61627000-61631000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:61628000-61638000	Weak transcription	Small Intestine	intestine
32	chr5:61628200-61630200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:61628200-61644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:61628400-61630800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:61628600-61631200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:61628800-61630200	Enhancers	Brain Angular Gyrus	brain
37	chr5:61628800-61630400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:61628800-61631800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:61628800-61632000	Strong transcription	Dnd41	blood
40	chr5:61628800-61652000	Weak transcription	Fetal Brain Female	brain
41	chr5:61629000-61630200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:61629000-61630200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:61629000-61630600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:61629000-61631200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:61629000-61631200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:61629000-61631200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:61629000-61631200	Strong transcription	Thymus	Thymus
48	chr5:61629000-61631400	Strong transcription	Fetal Intestine Small	intestine
49	chr5:61629000-61635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:61629200-61630200	Enhancers	Lung	lung

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