Variant report

Variant	rs12194625
Chromosome Location	chr6:133081091-133081092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133077337..133079211-chr6:133079475..133082173,2	K562	blood:
2	chr6:133080844..133083243-chr6:133120275..133122727,2	K562	blood:

Variant related genes	Relation type
ENSG00000112303	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10457591	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10457593	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10457596	0.85[CEU][hapmap]
rs10484628	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11154693	1.00[CHB][hapmap]
rs1128998	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12190684	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12193474	1.00[JPT][hapmap]
rs12194802	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12197430	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12199381	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12201540	0.87[EUR][1000 genomes]
rs12201769	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12204693	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12204740	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12204863	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12207011	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12209144	1.00[JPT][hapmap]
rs12211425	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12212934	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12215084	0.87[EUR][1000 genomes]
rs12215088	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12215486	0.87[EUR][1000 genomes]
rs13203382	1.00[CHB][hapmap]
rs13204496	1.00[CHB][hapmap]
rs13208524	1.00[CHB][hapmap]
rs13211436	1.00[CHB][hapmap]
rs2143387	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2294761	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28706652	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3778173	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3813347	1.00[JPT][hapmap]
rs62425109	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62425133	0.85[EUR][1000 genomes]
rs767148	1.00[CHB][hapmap]
rs9321365	1.00[CHB][hapmap]
rs9321367	1.00[CHB][hapmap]
rs9375919	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9389032	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9389033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9402452	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9402453	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9402455	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9483497	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12194625	C6orf192	Cis_1M	lymphoblastoid	RTeQTL
rs12194625	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133064200-133083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:133068800-133083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:133069600-133083200	Weak transcription	Thymus	Thymus
6	chr6:133072800-133082000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:133072800-133084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:133072800-133084800	Weak transcription	Stomach Mucosa	stomach
9	chr6:133073200-133083200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:133075800-133083600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:133078200-133081600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:133078800-133081400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:133078800-133081600	Enhancers	Placenta	Placenta
14	chr6:133078800-133081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:133078800-133083000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:133079000-133081200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:133079000-133083000	Enhancers	GM12878-XiMat	blood
18	chr6:133079000-133083200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:133079000-133083200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:133079000-133083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:133079000-133083600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:133079000-133083800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:133079000-133084800	Weak transcription	Liver	Liver
24	chr6:133079000-133085000	Weak transcription	A549	lung
25	chr6:133079400-133083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:133079800-133081800	Strong transcription	Primary T cells from cord blood	blood
27	chr6:133080000-133081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:133080000-133082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:133080000-133082800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:133080000-133083200	Weak transcription	Primary B cells from cord blood	blood
31	chr6:133080200-133082200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:133080200-133083200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:133080400-133085000	Weak transcription	Adipose Nuclei	Adipose
34	chr6:133080400-133085200	Weak transcription	Right Atrium	heart
35	chr6:133080600-133081400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:133080600-133082400	Weak transcription	Primary monocytes fromperipheralblood	blood

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