Variant report

Variant	rs6941262
Chromosome Location	chr6:144187282-144187283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144181106..144183993-chr6:144186106..144189190,3	K562	blood:
2	chr6:144181106..144183993-chr6:144186106..144190381,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10872563	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11155328	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1810524	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884089	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277078	0.82[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328508	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2328509	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818089	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140442	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379307	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4896676	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4896678	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4896680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62427458	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6918125	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7773870	1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9484817	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496785	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6941262	C6orf103	cis	cerebellum	SCAN
rs6941262	STON2	trans	parietal	SCAN
rs6941262	ADAT2	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144166000-144188600	Strong transcription	Primary T cells from cord blood	blood
2	chr6:144172400-144189000	Weak transcription	Small Intestine	intestine
3	chr6:144172600-144187800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:144174800-144187600	Strong transcription	Fetal Thymus	thymus
5	chr6:144175200-144187800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:144175600-144187400	Strong transcription	Liver	Liver
7	chr6:144175600-144187400	Strong transcription	Fetal Intestine Large	intestine
8	chr6:144175600-144187600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:144175800-144187600	Strong transcription	Adipose Nuclei	Adipose
10	chr6:144175800-144187600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr6:144175800-144187800	Strong transcription	Brain Hippocampus Middle	brain
12	chr6:144176200-144187800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:144176400-144187400	Strong transcription	Dnd41	blood
14	chr6:144177000-144187400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:144177200-144187600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:144177600-144187600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:144177600-144188200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:144177800-144187800	Strong transcription	Fetal Lung	lung
19	chr6:144178000-144187400	Strong transcription	HMEC	breast
20	chr6:144178200-144187600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr6:144178200-144187800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:144178800-144187600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:144178800-144187600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
25	chr6:144179000-144187800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:144179600-144188400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:144179800-144191200	Weak transcription	Psoas Muscle	Psoas
28	chr6:144181200-144187800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:144181400-144188000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:144183000-144193000	Weak transcription	Spleen	Spleen
31	chr6:144183200-144188800	Weak transcription	Colonic Mucosa	Colon
32	chr6:144183200-144189000	Weak transcription	Gastric	stomach
33	chr6:144183200-144189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:144183200-144190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:144183400-144189000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:144183600-144187400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:144183600-144188000	Weak transcription	Right Ventricle	heart
38	chr6:144183600-144188200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:144183600-144188400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:144184600-144187800	Weak transcription	NHDF-Ad	bronchial
41	chr6:144184600-144189000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:144184600-144190600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:144184800-144188800	Weak transcription	Brain Angular Gyrus	brain
44	chr6:144185200-144187600	Strong transcription	Brain Anterior Caudate	brain
45	chr6:144185200-144188200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:144185200-144188200	Weak transcription	Placenta	Placenta
47	chr6:144185400-144188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:144185600-144187600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:144185600-144187600	Strong transcription	Left Ventricle	heart
50	chr6:144185600-144188000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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