Variant report

Variant	rs3018437
Chromosome Location	chr8:105508391-105508392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:105494376-105512670	K562	blood:	n/a	n/a
2	POLR2A	chr8:105508201-105508575	K562	blood:	n/a	n/a

Variant related genes	Relation type
LRP12	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1533243	1.00[AFR][1000 genomes]
rs2458416	1.00[ASW][hapmap]
rs4291236	1.00[AFR][1000 genomes]
rs5013669	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6996424	1.00[ASW][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105489400-105512800	Weak transcription	Gastric	stomach
2	chr8:105491400-105510000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:105495600-105509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
6	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:105500800-105519800	Strong transcription	Dnd41	blood
8	chr8:105501000-105509200	Weak transcription	Lung	lung
9	chr8:105501200-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:105501400-105509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:105501400-105509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:105501400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
14	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:105501600-105509200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:105501600-105509200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:105501600-105509400	Weak transcription	HMEC	breast
20	chr8:105501600-105512200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:105501800-105509200	Weak transcription	NHLF	lung
23	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:105501800-105521000	Weak transcription	NHEK	skin
25	chr8:105502000-105510800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:105502200-105509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:105503200-105511200	Weak transcription	Esophagus	oesophagus
29	chr8:105503400-105509400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:105503400-105509800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:105503600-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:105503600-105509000	Weak transcription	HSMM	muscle
33	chr8:105503600-105509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:105503600-105509200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:105503600-105509200	Weak transcription	Primary T cells from cord blood	blood
36	chr8:105503600-105509200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:105503600-105509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:105503600-105509200	Weak transcription	Adipose Nuclei	Adipose
39	chr8:105503600-105509200	Weak transcription	Fetal Brain Male	brain
40	chr8:105503600-105509200	Weak transcription	Fetal Intestine Large	intestine
41	chr8:105503600-105509200	Weak transcription	Fetal Kidney	kidney
42	chr8:105503600-105509200	Weak transcription	Fetal Lung	lung
43	chr8:105503600-105509200	Weak transcription	Ovary	ovary
44	chr8:105503600-105509400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:105503600-105509600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
47	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
48	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
49	chr8:105503800-105508600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:105503800-105508800	Weak transcription	NH-A	brain

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