Variant report

Variant	rs7002606
Chromosome Location	chr8:110372371-110372372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110371418..110373000-chr8:110550789..110552367,2	K562	blood:
2	chr8:110371146..110373102-chr8:110382024..110383577,2	K562	blood:
3	chr8:110372108..110374370-chr8:110379678..110381794,2	K562	blood:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10088918	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10092565	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10092693	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10097258	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10098672	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099126	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101522	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1026439	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1037695	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10458302	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10955518	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12334438	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544835	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs12546429	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12550601	0.98[ASN][1000 genomes]
rs12679728	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12680439	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12681579	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs13252234	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs13253951	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13254245	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs13254461	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs13258279	0.87[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs13262995	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs13264576	0.95[ASN][1000 genomes]
rs13264587	0.95[ASN][1000 genomes]
rs13266285	0.97[ASN][1000 genomes]
rs13266293	0.95[ASN][1000 genomes]
rs13266374	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs13266838	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs13267428	0.97[ASN][1000 genomes]
rs13268429	0.97[ASN][1000 genomes]
rs13278812	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1379363	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1379364	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1379365	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1379369	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379370	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457284	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1457286	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1457287	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1457289	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457290	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457291	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1457292	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1457293	0.98[ASN][1000 genomes]
rs1458920	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1471124	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1471125	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1563579	0.81[JPT][hapmap]
rs1585294	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1624114	0.81[ASN][1000 genomes]
rs1626759	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs1627570	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1673390	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1673393	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1673394	0.80[EUR][1000 genomes]
rs1673396	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1673397	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1673398	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs1673400	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1673401	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1673403	0.81[EUR][1000 genomes]
rs1673404	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1673405	0.96[CEU][hapmap];0.84[ASN][1000 genomes]
rs1673407	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673408	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs16879470	0.96[ASN][1000 genomes]
rs1783142	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783143	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783144	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1783145	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783149	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783151	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1783152	0.96[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783163	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1783164	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1783165	0.87[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs1824193	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1840908	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1870107	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1870108	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1870109	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061294	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124982	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2168679	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2199120	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2349436	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2349759	0.92[ASN][1000 genomes]
rs2349760	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2349761	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2607637	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2607638	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2607639	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs2844251	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2844252	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2844253	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926224	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2926225	0.81[CHB][hapmap]
rs2926228	0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2926238	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2980569	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2980582	0.83[EUR][1000 genomes]
rs2980583	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4348463	0.98[ASN][1000 genomes]
rs4604408	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734212	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4735130	0.87[ASN][1000 genomes]
rs4735133	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735134	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6469256	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469257	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469260	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469261	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469262	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6651203	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6982748	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987198	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6993467	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993552	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6999505	0.99[ASN][1000 genomes]
rs7002926	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014589	0.95[ASN][1000 genomes]
rs7015262	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7016085	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7016609	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs714994	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs714995	0.81[EUR][1000 genomes]
rs7818553	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7819141	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7819151	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840592	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs897838	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897839	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs921958	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs921959	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs921960	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs9297425	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9642806	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs964307	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9656793	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9656882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs965930	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]

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	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	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3324923	chr8:110370872-110377960	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7002606	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs7002606	PKHD1L1	cis	Thyroid	GTEx
rs7002606	PKHD1L1	cis	multi-tissue	Pritchard
rs7002606	PKHD1L1	cis	Lymphoblastoid	GTEx
rs7002606	PKHD1L1	cis	Nerve Tibial	GTEx
rs7002606	RP11-419L20.2	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110364800-110374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:110367400-110372600	Weak transcription	K562	blood
3	chr8:110371200-110374400	Weak transcription	Right Atrium	heart
4	chr8:110372200-110372400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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