Variant report

Variant	rs4852975
Chromosome Location	chr2:73932465-73932466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
2	chr2:73931503..73934295-chr2:73936024..73937687,2	MCF-7	breast:
3	chr2:73927692..73931050-chr2:73931884..73934947,3	K562	blood:
4	chr2:73928399..73931050-chr2:73932225..73934947,2	K562	blood:

Variant related genes	Relation type
ENSG00000144035	Chromatin interaction
ENSG00000163016	Chromatin interaction
ENSG00000204872	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10172044	0.83[EUR][1000 genomes]
rs10190002	0.81[TSI][hapmap]
rs10191988	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10193032	0.83[CHD][hapmap]
rs10200762	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208995	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1052161	0.81[TSI][hapmap]
rs10865398	0.82[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap]
rs11126414	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11126415	0.96[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126416	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs11126417	0.87[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs11891140	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11892172	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11894953	0.87[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12052539	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12053242	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12233112	1.00[CEU][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12233115	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12611487	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612423	0.80[AMR][1000 genomes]
rs12615807	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12618600	0.85[TSI][hapmap]
rs12619258	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12620091	0.84[CHB][hapmap]
rs12624267	0.87[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12713788	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713789	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12713790	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12713791	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12713793	0.87[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12713794	0.84[EUR][1000 genomes]
rs12713795	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12713797	0.82[EUR][1000 genomes]
rs12713798	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12992607	0.87[CEU][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12997018	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12997568	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12998980	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13000788	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13003035	0.87[CEU][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13005729	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13006448	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13006598	0.87[AMR][1000 genomes]
rs13013228	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13014700	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13015885	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017182	0.84[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap]
rs13020517	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13022837	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026192	0.93[EUR][1000 genomes]
rs13031853	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13031866	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033744	1.00[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs1320374	0.81[TSI][hapmap]
rs17350056	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17350125	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17350188	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17434634	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17434655	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806683	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1815028	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2001436	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001490	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2006997	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2012574	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116367	0.87[CEU][hapmap]
rs2272051	0.83[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs2272178	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2421557	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421558	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421559	0.83[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes]
rs2421574	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2421575	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421582	0.82[CHB][hapmap]
rs2421586	0.83[TSI][hapmap]
rs2421668	0.83[TSI][hapmap]
rs2421672	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421674	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421675	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421676	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2421677	0.83[EUR][1000 genomes]
rs2462127	0.87[YRI][hapmap]
rs35421685	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35498419	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35767294	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35791379	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3813228	0.83[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs3980695	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4241257	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4358149	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4513320	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4530394	1.00[EUR][1000 genomes]
rs4852316	0.91[EUR][1000 genomes]
rs4852966	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4852967	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4852972	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4852976	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4852977	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4852978	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6732812	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745560	0.82[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap]
rs6748233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6749841	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6750494	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6750515	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6750877	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6755500	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7210	0.87[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7368570	0.84[AMR][1000 genomes]
rs7370393	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558546	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7570683	0.83[TSI][hapmap]
rs7591112	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7597302	0.80[AMR][1000 genomes]
rs7598660	0.83[MEX][hapmap]
rs7599453	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7606947	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7608328	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891695	0.81[EUR][1000 genomes]
rs891696	0.86[AMR][1000 genomes]
rs9309475	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9309476	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3426494	chr2:73876125-73939153	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3460808	chr2:73877074-73940302	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3460809	chr2:73877074-73940302	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2753082	chr2:73891045-73955545	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv34157	chr2:73901718-73949151	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4852975	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs4852975	ALMS1P	cis	Nerve Tibial	GTEx
rs4852975	DUSP11	cis	parietal	SCAN
rs4852975	ALMS1P	cis	cerebellum	SCAN
rs4852975	STAMBP	cis	parietal	SCAN
rs4852975	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs4852975	ALMS1	cis	parietal	SCAN
rs4852975	ALMS1	cis	cerebellum	SCAN
rs4852975	ALMS1P	cis	parietal	SCAN
rs4852975	DUSP11	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:73927200-73932600	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:73927200-73932600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:73927200-73932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:73927800-73954800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:73928400-73936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:73929200-73936400	Enhancers	Fetal Intestine Large	intestine
8	chr2:73929800-73934200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:73929800-73934400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:73929800-73934600	Weak transcription	Colonic Mucosa	Colon
11	chr2:73930600-73932800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr2:73931000-73933800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:73932200-73932600	Enhancers	Lung	lung
14	chr2:73932200-73934200	Weak transcription	K562	blood
15	chr2:73932200-73943400	Weak transcription	Ovary	ovary
16	chr2:73932400-73936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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