Variant report

Variant	rs4557672
Chromosome Location	chr8:103593066-103593067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103585276..103587852-chr8:103591024..103593965,2	K562	blood:
2	chr8:103423150..103424688-chr8:103591046..103593635,2	MCF-7	breast:
3	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2436916	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511745	0.90[YRI][hapmap];0.81[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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103589000-103595800	Weak transcription	Thymus	Thymus
2	chr8:103589200-103594400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:103589400-103595600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:103589400-103595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:103589400-103595800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:103589400-103596400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:103589600-103594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:103589800-103595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:103590000-103594800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:103590000-103596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:103590400-103596000	Weak transcription	Osteobl	bone
12	chr8:103590400-103597600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:103590600-103595600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:103590600-103595800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:103590600-103595800	Weak transcription	Adipose Nuclei	Adipose
16	chr8:103590600-103595800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:103590600-103595800	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:103590600-103595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:103590600-103596400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:103590800-103595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:103590800-103596400	Weak transcription	Right Atrium	heart
22	chr8:103590800-103596800	Weak transcription	Fetal Heart	heart
23	chr8:103591000-103595000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:103591400-103594400	Weak transcription	Spleen	Spleen
25	chr8:103591400-103595000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:103591400-103595800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:103591400-103595800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:103591400-103596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:103591400-103597400	Weak transcription	HMEC	breast
30	chr8:103591400-103597600	Weak transcription	NH-A	brain
31	chr8:103591600-103596600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:103591600-103602200	Weak transcription	Right Ventricle	heart
33	chr8:103591600-103602400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:103592000-103593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:103592000-103596800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:103592200-103594800	Weak transcription	Placenta	Placenta
37	chr8:103592200-103595600	Weak transcription	K562	blood
38	chr8:103592200-103596800	Weak transcription	Hela-S3	cervix
39	chr8:103592200-103598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:103592200-103598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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