Variant report

Variant	rs2844251
Chromosome Location	chr8:110470883-110470884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110466327..110471648-chr8:110473148..110480342,6	K562	blood:
2	chr8:110462238..110464562-chr8:110469589..110471882,2	K562	blood:
3	chr8:110470771..110473127-chr8:110474379..110476056,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10088918	0.86[CHB][hapmap]
rs10092565	0.87[CHB][hapmap]
rs10092693	0.86[CHB][hapmap]
rs10097258	0.87[CHB][hapmap]
rs10098672	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs10099126	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs10101522	0.87[CHB][hapmap]
rs1026439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037695	0.96[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10458302	0.86[CHB][hapmap]
rs10955518	0.87[CHB][hapmap]
rs12334438	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12544835	0.86[CHB][hapmap]
rs12546429	0.87[CHB][hapmap]
rs12679728	0.86[CHB][hapmap]
rs12680439	0.81[CHB][hapmap]
rs12681579	0.81[CHB][hapmap]
rs13252234	0.86[CHB][hapmap]
rs13253951	0.86[CHB][hapmap]
rs13254245	0.86[CHB][hapmap]
rs13254461	0.87[CHB][hapmap]
rs13262995	0.87[CHB][hapmap]
rs13266374	0.87[CHB][hapmap]
rs13266838	0.91[CHB][hapmap]
rs13278812	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1379363	0.87[CHB][hapmap]
rs1379364	0.90[CHB][hapmap]
rs1379365	0.83[CHB][hapmap]
rs1379369	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1379370	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1457284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457286	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1457287	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs1457289	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1457290	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1457291	0.82[EUR][1000 genomes]
rs1457292	0.87[CHB][hapmap]
rs1458920	0.87[CHB][hapmap]
rs1471124	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471125	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563579	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1585294	0.89[CEU][hapmap]
rs1624114	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1626759	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1627570	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673392	0.95[ASN][1000 genomes]
rs1673393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673394	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673396	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1673398	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673400	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673401	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673403	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673404	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1673405	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1673407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1673408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1673421	0.82[YRI][hapmap]
rs1673429	0.80[EUR][1000 genomes]
rs1783142	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783143	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783145	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783149	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783150	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783151	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1783152	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1783164	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1783165	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783168	0.85[YRI][hapmap]
rs1824193	0.87[CHB][hapmap]
rs1840908	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1870107	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1870108	0.87[CHB][hapmap]
rs1870109	0.82[EUR][1000 genomes]
rs2061294	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061295	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2124982	0.87[CHB][hapmap]
rs2168679	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2349436	0.86[CHB][hapmap]
rs2349760	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2349761	0.86[CHB][hapmap]
rs2607627	0.83[YRI][hapmap]
rs2607637	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607638	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607639	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844232	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2844252	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844253	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926228	0.89[CEU][hapmap]
rs2980569	0.89[CEU][hapmap]
rs4604408	0.91[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4734212	0.86[CHB][hapmap]
rs4735133	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735134	0.87[CHB][hapmap]
rs6469256	0.82[EUR][1000 genomes]
rs6469257	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6469260	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs6469261	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6469262	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6982748	0.96[CEU][hapmap]
rs6987198	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs6993467	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6993552	0.86[CHB][hapmap]
rs7002606	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7002926	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7015262	0.86[CHB][hapmap]
rs7016085	0.86[CHB][hapmap]
rs7016609	0.86[CHB][hapmap]
rs714994	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs714995	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818553	0.81[EUR][1000 genomes]
rs7819141	0.87[CHB][hapmap]
rs7819151	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs7840592	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs897838	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs897839	0.86[CHB][hapmap]
rs921958	0.87[CHB][hapmap]
rs921959	0.86[CHB][hapmap]
rs921960	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9297425	0.86[CHB][hapmap]
rs9642806	0.87[CHB][hapmap]
rs964307	0.86[CHB][hapmap]
rs9656793	0.87[CHB][hapmap]
rs9656882	0.87[CHB][hapmap]
rs965930	0.87[CHB][hapmap]

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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2844251	PKHD1L1	cis	multi-tissue	Pritchard
rs2844251	PKHD1L1	cis	Nerve Tibial	GTEx
rs2844251	PKHD1L1	cis	Lymphoblastoid	GTEx
rs2844251	PKHD1L1	cis	Thyroid	GTEx
rs2844251	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2844251	RP11-419L20.2	cis	Thyroid	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110463200-110492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:110469000-110471000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:110469600-110471200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:110470000-110471000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:110470000-110471000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:110470400-110471200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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