Variant report

Variant	rs12526668
Chromosome Location	chr6:106767627-106767628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106763386..106767673-chr6:106771561..106774998,5	K562	blood:
2	chr6:106759165..106761053-chr6:106765599..106767778,3	MCF-7	breast:
3	chr6:106767080..106769218-chr6:106772262..106773874,2	MCF-7	breast:
4	chr6:106763853..106765922-chr6:106766260..106768887,2	MCF-7	breast:
5	chr6:106762509..106764610-chr6:106766451..106770169,4	K562	blood:

Variant related genes	Relation type
ENSG00000057663	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10484576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10485352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10499049	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12524358	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12525660	0.81[AMR][1000 genomes]
rs12526431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12529488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1415945	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17066826	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17066828	0.81[AMR][1000 genomes]
rs17066837	0.81[AMR][1000 genomes]
rs17066840	0.81[AMR][1000 genomes]
rs17066847	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17066852	0.81[AMR][1000 genomes]
rs17066855	0.81[AMR][1000 genomes]
rs17587319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17625939	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28656919	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2883662	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761796	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3804332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804338	0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3810872	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945745	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945746	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4946735	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4946736	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4946737	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4946738	0.81[AMR][1000 genomes]
rs4946739	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4946741	0.93[CHB][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55682462	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56204731	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
2	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:106734800-106771800	Weak transcription	Esophagus	oesophagus
4	chr6:106735200-106773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:106740000-106771400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:106740000-106773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:106740200-106771400	Weak transcription	Small Intestine	intestine
8	chr6:106741000-106772200	Weak transcription	Fetal Lung	lung
9	chr6:106741200-106771400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:106751800-106771400	Weak transcription	Brain Germinal Matrix	brain
11	chr6:106757800-106771600	Weak transcription	Spleen	Spleen
12	chr6:106758200-106771400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:106758200-106772000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:106758800-106771400	Weak transcription	Brain Anterior Caudate	brain
15	chr6:106759400-106771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:106759400-106771600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:106759600-106772000	Weak transcription	NHLF	lung
18	chr6:106760800-106771400	Weak transcription	Fetal Brain Male	brain
19	chr6:106761200-106772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:106761400-106771400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:106761400-106771400	Weak transcription	Colonic Mucosa	Colon
22	chr6:106761400-106771800	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:106762000-106772600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:106763200-106770800	Weak transcription	Lung	lung
25	chr6:106763200-106771200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:106763200-106771200	Weak transcription	Fetal Intestine Small	intestine
27	chr6:106763200-106771200	Weak transcription	Pancreas	Pancrea
28	chr6:106763200-106771400	Weak transcription	Fetal Kidney	kidney
29	chr6:106763200-106771800	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:106763200-106771800	Weak transcription	Fetal Stomach	stomach
31	chr6:106763400-106771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:106763400-106771400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:106763400-106771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:106763400-106771800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:106763400-106771800	Weak transcription	Placenta	Placenta
36	chr6:106763400-106772400	Weak transcription	Aorta	Aorta
37	chr6:106763600-106771800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:106763600-106771800	Weak transcription	Thymus	Thymus
39	chr6:106763800-106771200	Weak transcription	Fetal Thymus	thymus
40	chr6:106763800-106772200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:106763800-106772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:106764000-106769400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:106764000-106770200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:106764000-106770200	Weak transcription	HepG2	liver
45	chr6:106764000-106771000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:106764000-106771400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:106764000-106771400	Weak transcription	Adipose Nuclei	Adipose
48	chr6:106764000-106771400	Weak transcription	Liver	Liver
49	chr6:106764000-106771400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:106764000-106771400	Weak transcription	Fetal Intestine Large	intestine

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