Variant report

Variant	rs264527
Chromosome Location	chr5:61629204-61629205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:61561395..61563266-chr5:61628626..61630582,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1308621	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs152200	1.00[AFR][1000 genomes]
rs173524	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs812510	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
2	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
3	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
6	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
7	chr5:61607800-61669400	Weak transcription	NHLF	lung
8	chr5:61610200-61658600	Weak transcription	Ovary	ovary
9	chr5:61610400-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
11	chr5:61611600-61639000	Weak transcription	HMEC	breast
12	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:61611800-61630000	Weak transcription	NHEK	skin
14	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:61618000-61629400	Weak transcription	Fetal Stomach	stomach
18	chr5:61618200-61629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
21	chr5:61618600-61629400	Weak transcription	Placenta	Placenta
22	chr5:61619200-61630000	Weak transcription	Colonic Mucosa	Colon
23	chr5:61621600-61631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:61621800-61638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:61622400-61633400	Weak transcription	HUVEC	blood vessel
26	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:61622600-61643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:61623000-61643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:61623800-61643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:61625400-61644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
36	chr5:61626000-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:61626000-61629600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:61626400-61629400	Weak transcription	Primary T cells from cord blood	blood
39	chr5:61626400-61629400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:61626600-61631800	Weak transcription	A549	lung
41	chr5:61626600-61639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:61627000-61630200	Enhancers	Fetal Brain Male	brain
43	chr5:61627000-61631000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:61627400-61629400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:61627800-61629400	Enhancers	Brain Germinal Matrix	brain
46	chr5:61628000-61629400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:61628000-61629400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:61628000-61629400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:61628000-61629600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:61628000-61638000	Weak transcription	Small Intestine	intestine

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