Variant report

Variant	rs6969285
Chromosome Location	chr7:27997214-27997215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27989841..27992529-chr7:27996286..27999269,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12671866	0.90[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs192254	0.80[EUR][1000 genomes]
rs253310	0.90[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38500	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs38504	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs38513	0.85[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs38514	0.81[CEU][hapmap]
rs38517	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs72598569	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72598573	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6969285	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:27980200-28000000	Weak transcription	Lung	lung
6	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
7	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
8	chr7:27987800-27998200	Weak transcription	Ovary	ovary
9	chr7:27987800-27999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:27988800-28002200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:27989200-28000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:27989400-27999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
14	chr7:27990600-27999800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:27990600-28000000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:27992000-28013400	Weak transcription	Left Ventricle	heart
17	chr7:27992200-27998000	Weak transcription	Psoas Muscle	Psoas
18	chr7:27993000-28001800	Strong transcription	Primary B cells from cord blood	blood
19	chr7:27993400-27998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:27993400-28000400	Weak transcription	HSMM	muscle
21	chr7:27993400-28001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:27993400-28001000	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:27993800-28000000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:27993800-28000000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:27994400-27997400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:27995400-28006000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:27995600-27998400	Enhancers	Colon Smooth Muscle	Colon
28	chr7:27995600-27998400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:27995800-27999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:27995800-28000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:27996200-27997400	Enhancers	Rectal Smooth Muscle	rectum

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