Variant report

Variant	rs2436916
Chromosome Location	chr8:103591237-103591238
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103531973..103534873-chr8:103588952..103591472,2	K562	blood:
2	chr8:103588516..103591531-chr8:103594981..103597999,4	K562	blood:
3	chr8:103589513..103592034-chr8:103595117..103597867,3	MCF-7	breast:
4	chr8:103575313..103581780-chr8:103582663..103591933,12	MCF-7	breast:
5	chr8:103589874..103592222-chr8:103638978..103641450,2	K562	blood:
6	chr8:103422101..103424296-chr8:103588950..103591613,2	K562	blood:
7	chr8:103589078..103592590-chr8:103593607..103596266,3	MCF-7	breast:
8	chr8:103307064..103308726-chr8:103589205..103591686,2	MCF-7	breast:
9	chr8:103585276..103587852-chr8:103591024..103593965,2	K562	blood:
10	chr8:103423150..103424688-chr8:103591046..103593635,2	MCF-7	breast:
11	chr8:103588718..103591936-chr8:103666685..103669912,4	MCF-7	breast:
12	chr8:103587589..103591283-chr8:103601784..103605142,3	MCF-7	breast:
13	chr8:103590031..103592050-chr8:103596499..103598678,2	K562	blood:
14	chr8:103588260..103591760-chr8:103612435..103616119,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2511745	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs4557672	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2436916	STK3	cis	cerebellum	SCAN
rs2436916	ZNF706	cis	cerebellum	SCAN
rs2436916	CREB5	trans	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103587600-103592200	Enhancers	Placenta	Placenta
2	chr8:103588400-103591400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:103589000-103595800	Weak transcription	Thymus	Thymus
4	chr8:103589200-103591400	Enhancers	Spleen	Spleen
5	chr8:103589200-103591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:103589200-103594400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:103589400-103591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:103589400-103592200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:103589400-103595600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:103589400-103595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:103589400-103595800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:103589400-103596400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:103589600-103591400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:103589600-103594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:103589800-103591400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:103589800-103591400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:103589800-103591400	Enhancers	HMEC	breast
18	chr8:103589800-103592000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:103589800-103595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:103590000-103594800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:103590000-103596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:103590200-103592000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:103590400-103596000	Weak transcription	Osteobl	bone
24	chr8:103590400-103597600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:103590600-103591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:103590600-103595600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:103590600-103595800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:103590600-103595800	Weak transcription	Adipose Nuclei	Adipose
29	chr8:103590600-103595800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:103590600-103595800	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:103590600-103595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:103590600-103596400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:103590800-103591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:103590800-103595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:103590800-103596400	Weak transcription	Right Atrium	heart
36	chr8:103590800-103596800	Weak transcription	Fetal Heart	heart
37	chr8:103591000-103591400	Weak transcription	Right Ventricle	heart
38	chr8:103591000-103591400	Enhancers	NH-A	brain
39	chr8:103591000-103595000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:103591200-103591400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:103591200-103591600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:103591200-103592200	Enhancers	Hela-S3	cervix
43	chr8:103591200-103592200	Enhancers	K562	blood

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