Variant report

Variant	rs28374574
Chromosome Location	chr8:86265137-86265138
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	chr8:86260251..86261829-chr8:86265124..86266765,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10110030	1.00[CHD][hapmap]
rs13257749	1.00[ASW][hapmap]
rs16913798	1.00[CHD][hapmap]
rs2088305	1.00[CHD][hapmap]
rs2088306	1.00[CHD][hapmap]
rs28489491	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv972109	chr8:86264488-86265285	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs28374574	C8orf59	cis	parietal	SCAN
rs28374574	C8orf59	cis	cerebellum	SCAN
rs28374574	DCAF4L2	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86261600-86265400	Enhancers	Fetal Lung	lung
2	chr8:86261800-86265200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:86261800-86265400	Enhancers	Adipose Nuclei	Adipose
4	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:86262400-86265400	Enhancers	Fetal Muscle Leg	muscle
6	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:86263600-86265200	Enhancers	Fetal Intestine Large	intestine
8	chr8:86263800-86265400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:86264200-86265400	Enhancers	Fetal Intestine Small	intestine
10	chr8:86264200-86265400	Enhancers	Psoas Muscle	Psoas
11	chr8:86264200-86265400	Enhancers	Right Atrium	heart
12	chr8:86264200-86265600	Enhancers	NHEK	skin
13	chr8:86264400-86265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:86264400-86265400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr8:86264400-86265400	Enhancers	HMEC	breast
16	chr8:86264600-86265400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:86264600-86265400	Enhancers	Esophagus	oesophagus
18	chr8:86264600-86265400	Enhancers	Ovary	ovary
19	chr8:86264600-86265400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:86264600-86265400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:86264800-86265200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:86264800-86266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:86264800-86266800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:86264800-86267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:86265000-86266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links