Variant report

Variant	rs4841098
Chromosome Location	chr8:8952019-8952020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
2	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
3	chr8:8951477..8953805-chr8:8956815..8960105,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10111962	0.87[ASN][1000 genomes]
rs11776300	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11782937	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11994429	0.87[ASN][1000 genomes]
rs13248595	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13256068	0.88[EUR][1000 genomes]
rs13264785	1.00[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13439673	0.83[ASN][1000 genomes]
rs1445494	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1445495	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17155244	0.87[ASN][1000 genomes]
rs1809006	0.91[EUR][1000 genomes]
rs4840392	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4840393	0.90[EUR][1000 genomes]
rs4841099	0.95[EUR][1000 genomes]
rs4841100	0.89[EUR][1000 genomes]
rs4841101	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841102	0.89[EUR][1000 genomes]
rs56106119	0.88[EUR][1000 genomes]
rs6601289	0.90[EUR][1000 genomes]
rs7014850	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7465439	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7822500	0.87[ASN][1000 genomes]
rs7822664	0.87[ASN][1000 genomes]
rs9650629	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4841098	FLJ10661	cis	cerebellum	SCAN
rs4841098	CTSB	cis	cerebellum	SCAN
rs4841098	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:8946400-8953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:8946600-8953400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:8946600-8953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:8949200-8953000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:8950000-8954000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:8950600-8954600	Enhancers	Stomach Mucosa	stomach
8	chr8:8951600-8952800	Enhancers	Fetal Heart	heart
9	chr8:8951600-8953200	Enhancers	Fetal Lung	lung
10	chr8:8951600-8954200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:8951600-8954600	Enhancers	A549	lung
12	chr8:8951800-8952200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:8951800-8952200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:8951800-8952200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:8951800-8952200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:8951800-8952200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:8951800-8952200	Enhancers	Lung	lung
18	chr8:8951800-8952200	Enhancers	Pancreas	Pancrea
19	chr8:8951800-8952200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:8951800-8952200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:8951800-8952200	Enhancers	Small Intestine	intestine
22	chr8:8951800-8952400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:8951800-8952400	Enhancers	Fetal Intestine Small	intestine
24	chr8:8951800-8952400	Enhancers	Fetal Stomach	stomach
25	chr8:8951800-8954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:8951800-8954600	Enhancers	Liver	Liver
27	chr8:8951800-8954600	Enhancers	Ovary	ovary
28	chr8:8952000-8952200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:8952000-8952200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:8952000-8952200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:8952000-8952600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:8952000-8953600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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