Variant report

Variant	rs831503
Chromosome Location	chr6:36989152-36989153
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	RAD21	chr6:36988997-36990029	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr6:36989138-36990083	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:36989040-36989190	BJ	skin:	n/a	n/a
4	POLR2A	chr6:36989130-36989328	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36944786..36946944-chr6:36988246..36989759,2	MCF-7	breast:
2	chr6:36989098..36990112-chr6:37139646..37140588,5	K562	blood:

Variant related genes	Relation type
FGD2	TF binding region
ENSG00000137193	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs708015	0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs831496	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs831504	0.83[CHD][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes]
rs831505	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515488	chr6:36978745-36989587	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3436059	chr6:36986674-36990872	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831503	BTBD9	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36975600-36989600	Weak transcription	Thymus	Thymus
2	chr6:36983400-36995000	Weak transcription	Lung	lung
3	chr6:36986000-36989200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:36986000-36989600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:36986400-36989400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:36986400-36989400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:36986400-36989400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:36986400-36989600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:36986400-36990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:36986600-36989600	Weak transcription	HSMM	muscle
11	chr6:36986600-36989600	Weak transcription	HUVEC	blood vessel
12	chr6:36986600-36991000	Weak transcription	Stomach Mucosa	stomach
13	chr6:36986600-36992600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:36986800-37006600	Weak transcription	Colonic Mucosa	Colon
15	chr6:36987000-36990200	Weak transcription	Adipose Nuclei	Adipose
16	chr6:36987000-36991200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:36987000-36991800	Strong transcription	GM12878-XiMat	blood
18	chr6:36987000-36993200	Weak transcription	Placenta	Placenta
19	chr6:36987000-36996800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:36987000-36996800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr6:36987200-36989200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:36987200-36989200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:36987200-36989200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:36987200-36989200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:36987200-36989200	Weak transcription	Fetal Thymus	thymus
26	chr6:36987200-36989400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:36987200-36989400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:36987200-36989400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:36987200-36989400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:36987200-36989400	Weak transcription	A549	lung
31	chr6:36987200-36989600	Weak transcription	NH-A	brain
32	chr6:36987200-36989600	Weak transcription	NHLF	lung
33	chr6:36987200-36990000	Strong transcription	Spleen	Spleen
34	chr6:36987200-36993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:36987200-36995000	Strong transcription	Primary B cells from cord blood	blood
36	chr6:36987200-36997200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:36987400-36989200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:36987400-36989200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:36987400-36989200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:36987400-36989400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:36987400-36989400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:36987400-36989400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:36987400-36989600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:36987400-36989600	Weak transcription	Hela-S3	cervix
45	chr6:36987400-36989600	Weak transcription	NHEK	skin
46	chr6:36987400-36989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:36987400-36989800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:36987400-36990000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:36987400-36990000	Weak transcription	Fetal Stomach	stomach
50	chr6:36987600-36989400	Weak transcription	HMEC	breast

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