Variant report

Variant	rs1308621
Chromosome Location	chr5:61666489-61666490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61664356..61667065-chr5:61671280..61672998,2	K562	blood:
2	chr5:61660448..61662458-chr5:61663921..61666770,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs152200	1.00[AFR][1000 genomes]
rs173524	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs264527	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs812510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
11	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS 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
14	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61607800-61669400	Weak transcription	NHLF	lung
2	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:61631200-61669400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:61631200-61669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:61631200-61676000	Weak transcription	Lung	lung
8	chr5:61638600-61671200	Weak transcription	Small Intestine	intestine
9	chr5:61639800-61684200	Weak transcription	Psoas Muscle	Psoas
10	chr5:61641400-61682400	Weak transcription	Fetal Heart	heart
11	chr5:61642400-61697400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:61642600-61688400	Weak transcription	Right Ventricle	heart
13	chr5:61642600-61696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:61642600-61699200	Weak transcription	Gastric	stomach
15	chr5:61643000-61697000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:61643800-61680600	Strong transcription	Placenta	Placenta
17	chr5:61644000-61671600	Weak transcription	Stomach Mucosa	stomach
18	chr5:61644000-61689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:61645400-61689200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:61646800-61673800	Weak transcription	Fetal Brain Male	brain
21	chr5:61647000-61690000	Weak transcription	Spleen	Spleen
22	chr5:61647600-61698000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:61650000-61667800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:61656200-61698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:61656800-61687800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:61658400-61691800	Strong transcription	Dnd41	blood
27	chr5:61659200-61669400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:61659200-61669600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:61659200-61669600	Weak transcription	Aorta	Aorta
30	chr5:61659800-61669200	Weak transcription	HUVEC	blood vessel
31	chr5:61659800-61669400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:61659800-61669400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:61659800-61669400	Weak transcription	HepG2	liver
34	chr5:61659800-61695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:61660800-61666800	Weak transcription	NHEK	skin
36	chr5:61660800-61671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:61661000-61669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:61661000-61678600	Strong transcription	Fetal Thymus	thymus
39	chr5:61661800-61668200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:61661800-61669400	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:61661800-61680000	Weak transcription	Colonic Mucosa	Colon
42	chr5:61661800-61698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:61662000-61666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:61662000-61667200	Weak transcription	K562	blood
45	chr5:61662000-61667600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:61662000-61667600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:61662000-61667800	Weak transcription	Brain Substantia Nigra	brain
48	chr5:61662000-61669400	Weak transcription	Brain Angular Gyrus	brain
49	chr5:61662000-61669400	Weak transcription	Thymus	Thymus
50	chr5:61662000-61669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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