Variant report

Variant	rs831496
Chromosome Location	chr6:36992237-36992238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36990980..36992588-chr6:37004025..37006241,2	MCF-7	breast:
2	chr6:36990423..36992455-chr6:37172095..37173787,2	K562	blood:
3	chr6:36989570..36992539-chr6:37178142..37179821,2	MCF-7	breast:
4	chr6:36991470..36994009-chr6:36994154..36996007,2	K562	blood:
5	chr6:36990365..36993008-chr6:37173056..37174910,2	MCF-7	breast:
6	chr6:36990515..36993191-chr6:37140306..37142032,2	K562	blood:
7	chr6:36990051..36995346-chr6:37136390..37139647,6	K562	blood:
8	chr6:36987000..36988996-chr6:36992167..36994325,2	MCF-7	breast:
9	chr6:36952740..36955730-chr6:36990686..36992977,2	MCF-7	breast:
10	chr6:36990312..36994052-chr6:36999183..37001742,4	MCF-7	breast:
11	chr6:36990146..36994003-chr6:37137207..37141161,5	MCF-7	breast:
12	chr6:36990308..36994435-chr6:37135955..37142463,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs708015	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs831503	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	0.81[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes]
rs831505	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831496	BTBD9	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36983400-36995000	Weak transcription	Lung	lung
2	chr6:36986600-36992600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:36986800-37006600	Weak transcription	Colonic Mucosa	Colon
4	chr6:36987000-36993200	Weak transcription	Placenta	Placenta
5	chr6:36987000-36996800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr6:36987000-36996800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:36987200-36993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:36987200-36995000	Strong transcription	Primary B cells from cord blood	blood
9	chr6:36987200-36997200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:36988200-36998000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr6:36988600-37006600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:36989000-36992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:36989200-36992400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:36989200-36993400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:36989400-36993000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:36989400-36994200	Enhancers	HMEC	breast
17	chr6:36989600-36992400	Enhancers	HepG2	liver
18	chr6:36989600-36993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:36989800-36992600	Enhancers	Liver	Liver
20	chr6:36990000-36992600	Weak transcription	HSMM	muscle
21	chr6:36990000-36992800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:36990000-36993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:36990000-36993800	Weak transcription	K562	blood
24	chr6:36990000-36997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:36990200-36994200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:36990200-36996400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:36990200-36998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:36990200-37006600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:36990400-36993800	Weak transcription	Fetal Thymus	thymus
30	chr6:36990400-36997000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:36990600-36992400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:36990600-36992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:36990600-36993200	Enhancers	NHEK	skin
34	chr6:36990800-36994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:36991000-37001600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:36991200-36997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:36991200-36997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:36991400-36992400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:36991400-36992600	Weak transcription	Esophagus	oesophagus
40	chr6:36991400-36992600	Weak transcription	Pancreas	Pancrea
41	chr6:36991400-36992600	Weak transcription	Spleen	Spleen
42	chr6:36991400-36995000	Weak transcription	Stomach Mucosa	stomach
43	chr6:36991400-36996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:36991600-36992600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:36991600-36992600	Weak transcription	Gastric	stomach
46	chr6:36991600-36992600	Weak transcription	Dnd41	blood
47	chr6:36991600-36996600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:36991600-36996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:36991600-36997000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:36991600-36998400	Weak transcription	Adipose Nuclei	Adipose

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