Variant report

Variant	rs10837868
Chromosome Location	chr11:5367569-5367570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5033143-5038367..11:5363591-5368290	Hela-S3	cervix:
2	chr11:5337010..5339667-chr11:5367362..5370323,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HBE1-1	chr11:5367492-5367583	ENSG00000167355.3
2	lnc-HBE1-1	chr11:5367492-5367583	ENSG00000167355.3
3	lnc-HBE1-1	chr11:5367492-5367583	ENSG00000167355.3
4	lnc-HBE1-1	chr11:5367492-5367583	NR_038321

Variant related genes	Relation type
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10768828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768830	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10768831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837873	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10837878	0.98[ASN][1000 genomes]
rs10837950	0.91[JPT][hapmap]
rs10837953	0.81[JPT][hapmap]
rs10837965	0.91[JPT][hapmap]
rs10837995	0.88[JPT][hapmap]
rs11036912	0.84[JPT][hapmap]
rs11036923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11036924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11036925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11036927	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11036930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11036936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037129	0.91[JPT][hapmap]
rs11037137	0.91[JPT][hapmap]
rs11037143	0.91[JPT][hapmap]
rs11037144	0.91[JPT][hapmap]
rs11037145	0.91[JPT][hapmap]
rs11037150	0.91[JPT][hapmap]
rs11037152	0.91[JPT][hapmap]
rs11037153	0.91[JPT][hapmap]
rs11037178	0.91[JPT][hapmap]
rs11037215	0.88[JPT][hapmap]
rs11601176	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11601662	0.81[ASN][1000 genomes]
rs11603059	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11604159	0.91[JPT][hapmap]
rs11604201	0.91[JPT][hapmap]
rs11604520	0.91[JPT][hapmap]
rs11604556	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11604883	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11607365	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12275713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360697	0.91[JPT][hapmap]
rs12364011	0.91[JPT][hapmap]
rs12365474	0.91[JPT][hapmap]
rs12796030	1.00[JPT][hapmap]
rs12801179	1.00[JPT][hapmap]
rs16913820	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17270517	1.00[JPT][hapmap]
rs17270776	1.00[JPT][hapmap]
rs17270818	1.00[JPT][hapmap]
rs17270832	1.00[JPT][hapmap]
rs17270894	1.00[JPT][hapmap]
rs17271552	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17271573	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17355605	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17356328	0.81[ASN][1000 genomes]
rs17356445	1.00[JPT][hapmap]
rs17356507	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17356535	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1846319	0.91[JPT][hapmap]
rs1846320	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1909257	0.91[JPT][hapmap]
rs2467229	0.92[JPT][hapmap]
rs2467232	1.00[JPT][hapmap]
rs2647598	1.00[JPT][hapmap]
rs2647599	1.00[JPT][hapmap]
rs2647600	1.00[JPT][hapmap]
rs2647601	1.00[JPT][hapmap]
rs2647606	1.00[JPT][hapmap]
rs2723380	1.00[JPT][hapmap]
rs2723387	1.00[JPT][hapmap]
rs2736553	1.00[JPT][hapmap]
rs2736555	1.00[JPT][hapmap]
rs2736557	1.00[JPT][hapmap]
rs2736560	1.00[JPT][hapmap]
rs2736561	1.00[JPT][hapmap]
rs2736565	1.00[JPT][hapmap]
rs28819138	0.81[ASN][1000 genomes]
rs4078480	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4255565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269953	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4271412	0.87[ASN][1000 genomes]
rs4304811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312094	0.84[JPT][hapmap]
rs4326830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4345997	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4463873	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4492850	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4495917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623930	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4910551	0.84[JPT][hapmap]
rs4910552	1.00[JPT][hapmap]
rs4910757	1.00[JPT][hapmap]
rs4910760	1.00[JPT][hapmap]
rs4910762	1.00[JPT][hapmap]
rs4910764	0.81[ASN][1000 genomes]
rs4910765	1.00[JPT][hapmap]
rs4910770	1.00[JPT][hapmap]
rs4910771	1.00[JPT][hapmap]
rs5019249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5024037	1.00[JPT][hapmap]
rs6578611	0.84[JPT][hapmap]
rs7106330	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7109909	1.00[JPT][hapmap]
rs7113291	0.91[JPT][hapmap]
rs7116471	0.91[JPT][hapmap]
rs728925	0.91[JPT][hapmap]
rs7483786	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7929631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7930818	0.91[JPT][hapmap]
rs7942877	0.88[JPT][hapmap]
rs7943181	0.81[ASN][1000 genomes]
rs884222	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5360400-5368200	Strong transcription	K562	blood
2	chr11:5364000-5367600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5364600-5367600	Enhancers	Osteobl	bone
4	chr11:5365400-5369600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:5365400-5369600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:5365600-5369600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5366800-5367600	Enhancers	Hela-S3	cervix
9	chr11:5367200-5367600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:5367400-5367600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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