Variant report

Variant	rs10804875
Chromosome Location	chr3:178678939-178678940
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	chr3:178674268..178676361-chr3:178678213..178681169,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10936987	0.85[ASN][1000 genomes]
rs10936988	0.84[ASN][1000 genomes]
rs11716079	0.85[ASN][1000 genomes]
rs11926798	0.85[ASN][1000 genomes]
rs4245916	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4254707	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4328857	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425305	0.89[EUR][1000 genomes]
rs4583702	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4955797	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4955799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59942474	0.86[ASN][1000 genomes]
rs61626196	0.86[ASN][1000 genomes]
rs6443608	0.84[ASN][1000 genomes]
rs6761999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6778195	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780631	0.84[ASN][1000 genomes]
rs6794243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797848	0.86[ASN][1000 genomes]
rs7611854	0.84[ASN][1000 genomes]
rs9815772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9816837	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9832291	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862902	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867005	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9871126	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1010148	chr3:178650949-178691377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178668800-178683000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:178669400-178685000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:178671400-178684000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:178676800-178683600	Weak transcription	GM12878-XiMat	blood
5	chr3:178677800-178679800	Genic enhancers	HSMM	muscle
6	chr3:178677800-178679800	Enhancers	HSMMtube	muscle
7	chr3:178677800-178680000	Enhancers	Fetal Lung	lung
8	chr3:178677800-178680000	Enhancers	Fetal Stomach	stomach
9	chr3:178678000-178679600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:178678000-178679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:178678000-178680200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:178678200-178684600	Weak transcription	Psoas Muscle	Psoas
13	chr3:178678600-178679200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:178678600-178679800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:178678600-178684000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:178678600-178684000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:178678600-178684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:178678600-178684600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:178678800-178684400	Weak transcription	Brain Anterior Caudate	brain

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