Variant report

Variant	rs12033957
Chromosome Location	chr1:210715234-210715235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10779535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10779536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863842	0.94[ASN][1000 genomes]
rs10863843	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11119527	0.87[ASN][1000 genomes]
rs11119530	0.87[EUR][1000 genomes]
rs11119533	0.87[EUR][1000 genomes]
rs11119534	0.87[EUR][1000 genomes]
rs11119535	0.93[ASN][1000 genomes]
rs11119536	0.94[ASN][1000 genomes]
rs11119537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119539	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029929	0.91[ASN][1000 genomes]
rs12034950	0.85[ASN][1000 genomes]
rs12072976	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12075603	0.95[ASN][1000 genomes]
rs12079415	0.81[ASN][1000 genomes]
rs12121717	0.81[EUR][1000 genomes]
rs12122988	0.87[EUR][1000 genomes]
rs12125970	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12126012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12126287	0.87[EUR][1000 genomes]
rs12127018	0.87[EUR][1000 genomes]
rs12127170	0.88[EUR][1000 genomes]
rs12127932	0.87[EUR][1000 genomes]
rs12129347	0.84[EUR][1000 genomes]
rs12129382	0.84[EUR][1000 genomes]
rs12136151	0.84[EUR][1000 genomes]
rs12403873	0.94[ASN][1000 genomes]
rs12404948	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12405221	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17016393	0.86[ASN][1000 genomes]
rs17016397	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17016400	0.81[ASN][1000 genomes]
rs17188337	0.87[EUR][1000 genomes]
rs17260515	0.87[EUR][1000 genomes]
rs17260522	0.87[EUR][1000 genomes]
rs17260529	0.87[EUR][1000 genomes]
rs1892471	0.86[EUR][1000 genomes]
rs1892472	0.86[EUR][1000 genomes]
rs1892473	0.86[EUR][1000 genomes]
rs2069151	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2069153	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2069154	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2069155	0.89[ASN][1000 genomes]
rs4845044	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845045	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845046	0.91[ASN][1000 genomes]
rs4845047	0.89[ASN][1000 genomes]
rs4845048	0.86[ASN][1000 genomes]
rs4845049	0.86[ASN][1000 genomes]
rs4845050	0.84[ASN][1000 genomes]
rs4845051	0.84[ASN][1000 genomes]
rs58599805	0.84[EUR][1000 genomes]
rs59289142	0.86[EUR][1000 genomes]
rs59525134	0.88[EUR][1000 genomes]
rs61828096	0.84[EUR][1000 genomes]
rs61828123	0.87[EUR][1000 genomes]
rs6680553	0.83[EUR][1000 genomes]
rs7551813	0.84[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv988198	chr1:210707300-210716552	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv1812485	chr1:210712495-210724779	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210710000-210715400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:210710800-210719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210715000-210715600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:210715000-210715600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:210715000-210715600	Enhancers	HSMMtube	muscle
8	chr1:210715200-210715400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:210715200-210715400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:210715200-210715400	Enhancers	Ovary	ovary
11	chr1:210715200-210715600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:210715200-210715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:210715200-210715600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210715200-210715600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:210715200-210715600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:210715200-210715600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:210715200-210715600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210715200-210715600	Enhancers	NH-A	brain
19	chr1:210715200-210715800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:210715200-210715800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:210715200-210715800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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