Variant report

Variant	rs532584482
Chromosome Location	chr5:61631522-61631523
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	chr5:61629672..61632580-chr5:61634669..61639677,5	K562	blood:
3	chr5:61617006..61619910-chr5:61629943..61631558,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

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	chr5:61611600-61639000	Weak transcription	HMEC	breast
7	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
13	chr5:61621600-61631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:61621800-61638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:61622400-61633400	Weak transcription	HUVEC	blood vessel
16	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:61622600-61643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:61623000-61643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:61623800-61643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:61625400-61644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:61626600-61631800	Weak transcription	A549	lung
27	chr5:61626600-61639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:61628000-61638000	Weak transcription	Small Intestine	intestine
29	chr5:61628200-61644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:61628800-61631800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:61628800-61632000	Strong transcription	Dnd41	blood
32	chr5:61628800-61652000	Weak transcription	Fetal Brain Female	brain
33	chr5:61629000-61635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:61629400-61631600	Strong transcription	Placenta	Placenta
36	chr5:61629400-61632200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:61629600-61632000	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:61629600-61645600	Weak transcription	HSMMtube	muscle
39	chr5:61629600-61665000	Weak transcription	Esophagus	oesophagus
40	chr5:61629800-61643200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:61629800-61659400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:61630200-61632000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:61630200-61632400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:61630200-61646000	Weak transcription	Fetal Brain Male	brain
45	chr5:61630400-61632200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:61630600-61632000	Enhancers	Brain Hippocampus Middle	brain
47	chr5:61630600-61643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:61630600-61644000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:61630800-61631800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:61630800-61633000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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