Variant report

Variant	rs4841097
Chromosome Location	chr8:8946163-8946164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
2	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
3	chr8:8944921..8946631-chr8:9007353..9010228,2	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10105813	1.00[JPT][hapmap]
rs2979245	0.81[ASW][hapmap];0.81[CEU][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes]
rs7009435	1.00[JPT][hapmap]

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	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	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	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
8	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4841097	FLJ10661	cis	cerebellum	SCAN
rs4841097	PPP1R3B	cis	cerebellum	SCAN
rs4841097	TDH	cis	cerebellum	SCAN
rs4841097	PRSS55	cis	cerebellum	SCAN
rs4841097	C8orf79	cis	cerebellum	SCAN
rs4841097	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
6	chr8:8942600-8946200	Weak transcription	A549	lung
7	chr8:8945000-8946600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:8945000-8947000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr8:8945000-8947000	Enhancers	HUVEC	blood vessel
10	chr8:8945200-8946200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:8945200-8946200	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:8945200-8946200	Flanking Active TSS	NH-A	brain
13	chr8:8945200-8946600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:8945200-8946600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:8945200-8946600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:8945200-8946600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:8945200-8946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:8945200-8946600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:8945200-8946600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:8945200-8946600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:8945200-8946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:8945200-8946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:8945200-8946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:8945200-8946800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:8945200-8947000	Enhancers	HMEC	breast
26	chr8:8945200-8947000	Enhancers	Osteobl	bone
27	chr8:8945200-8947200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:8945200-8947400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:8945200-8947400	Enhancers	Placenta	Placenta
30	chr8:8945400-8946200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:8945400-8946200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:8945400-8946200	Enhancers	HSMM	muscle
33	chr8:8945400-8946400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:8945400-8946400	Weak transcription	Spleen	Spleen
35	chr8:8945400-8946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:8945400-8946600	Enhancers	Fetal Thymus	thymus
37	chr8:8945400-8946600	Enhancers	NHDF-Ad	bronchial
38	chr8:8945400-8946800	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:8945400-8946800	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:8945600-8946400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr8:8945600-8946400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:8945600-8946400	Enhancers	Thymus	Thymus
43	chr8:8945600-8946600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:8945600-8946600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:8945600-8946800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:8945800-8946200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:8945800-8946200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:8945800-8946200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:8945800-8946200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:8945800-8946600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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