Variant report

Variant	rs1146599
Chromosome Location	chr1:76237910-76237911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
2	chr1:76236456..76238614-chr1:76251949..76253787,2	K562	blood:
3	chr1:76237665..76239915-chr1:76250102..76252794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1021463	1.00[EUR][1000 genomes]
rs1068884	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146585	0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146601	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146603	0.94[MKK][hapmap]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs12072013	0.81[AMR][1000 genomes]
rs1250879	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251074	0.81[ASW][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696678	0.82[AMR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699689	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699823	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699826	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	0.82[AMR][1000 genomes];1.00[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:76227800-76239600	Weak transcription	GM12878-XiMat	blood
4	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:76234000-76241000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:76234600-76241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:76236600-76238000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:76237600-76238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:76237600-76238200	Enhancers	NHEK	skin
10	chr1:76237800-76238000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:76237800-76238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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