Variant report

Variant	rs1050015
Chromosome Location	chr6:160527180-160527181
allele	A/C
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	chr6:160526315-160534545	K562	blood:	n/a	n/a
2	POLR2A	chr6:160527115-160527485	K562	blood:	n/a	n/a
3	POLR2A	chr6:160527106-160527466	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160522898..160525661-chr6:160527102..160528911,2	K562	blood:

Variant related genes	Relation type
ENSG00000270949	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10945650	0.81[CEU][hapmap]
rs17200966	0.86[CEU][hapmap];0.82[YRI][hapmap]
rs2297371	0.83[TSI][hapmap]
rs3777406	0.86[CEU][hapmap]
rs45584532	0.93[AMR][1000 genomes]
rs56384560	0.93[AMR][1000 genomes]
rs58458113	0.82[AFR][1000 genomes]
rs62440863	0.98[AMR][1000 genomes]
rs62440864	0.98[AMR][1000 genomes]
rs73025508	0.82[AMR][1000 genomes]
rs73025542	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7762846	0.91[AMR][1000 genomes]
rs8191888	0.82[AMR][1000 genomes]
rs9347385	0.82[AFR][1000 genomes]
rs9355776	0.80[AFR][1000 genomes]
rs9365132	0.82[AFR][1000 genomes]
rs9365133	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1050015	OSTCL	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:160477200-160531200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:160477200-160531400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:160487600-160530800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:160490200-160531400	Strong transcription	Dnd41	blood
9	chr6:160491200-160531400	Strong transcription	Fetal Thymus	thymus
10	chr6:160492000-160528800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr6:160504800-160529400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:160510200-160531000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr6:160511000-160531600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:160511000-160531600	Strong transcription	Fetal Muscle Leg	muscle
15	chr6:160511400-160532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:160512000-160532800	Weak transcription	A549	lung
17	chr6:160512000-160539200	Weak transcription	Stomach Mucosa	stomach
18	chr6:160512600-160529200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:160512800-160527800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr6:160515600-160527800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:160518000-160532200	Weak transcription	Fetal Brain Male	brain
22	chr6:160520200-160528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:160521600-160529600	Strong transcription	Rectal Smooth Muscle	rectum
24	chr6:160521800-160529400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:160521800-160537600	Strong transcription	Fetal Intestine Small	intestine
26	chr6:160522000-160527400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:160522000-160528000	Strong transcription	Primary B cells from cord blood	blood
28	chr6:160522000-160529400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:160522000-160530600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:160522000-160531000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:160522000-160531400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:160522000-160531600	Strong transcription	Thymus	Thymus
33	chr6:160522200-160527200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:160522200-160527400	Strong transcription	Brain Cingulate Gyrus	brain
35	chr6:160522200-160527600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:160522200-160527600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:160522200-160528000	Strong transcription	GM12878-XiMat	blood
38	chr6:160522200-160528600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr6:160522200-160529400	Strong transcription	Esophagus	oesophagus
40	chr6:160522200-160529400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:160522200-160529600	Strong transcription	Adipose Nuclei	Adipose
42	chr6:160522200-160529600	Strong transcription	Spleen	Spleen
43	chr6:160522200-160529800	Strong transcription	Primary T cells from cord blood	blood
44	chr6:160522200-160531400	Strong transcription	Fetal Stomach	stomach
45	chr6:160522400-160527600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:160522400-160527600	Strong transcription	Pancreas	Pancrea
47	chr6:160522400-160527800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:160522400-160528000	Strong transcription	Ovary	ovary
49	chr6:160522400-160528600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:160522400-160529000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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