Variant report

Variant	rs10208995
Chromosome Location	chr2:73976037-73976038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73962788..73968740-chr2:73972105..73977482,12	MCF-7	breast:
2	chr2:73963856..73966240-chr2:73974280..73976997,3	MCF-7	breast:
3	chr2:73970816..73973211-chr2:73974076..73976705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144034	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10172044	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10191988	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10193032	0.91[ASN][1000 genomes]
rs10203740	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11126414	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11126415	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11126416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11126417	0.99[EUR][1000 genomes]
rs11891140	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11892172	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11894953	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12052539	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12053242	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12233112	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12233115	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12611487	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12612423	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12615807	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619258	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12624267	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12713788	0.84[EUR][1000 genomes]
rs12713789	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713790	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713791	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713793	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713794	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713795	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713797	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12713798	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12992607	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12997568	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12998980	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13000788	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13003035	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13005729	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13006448	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13006598	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13013228	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13014700	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13015885	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13020517	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13031853	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13031866	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13033744	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13035662	0.80[AMR][1000 genomes]
rs13383097	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17350056	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17350125	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17350188	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17434634	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17434655	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1806683	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1815028	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2001436	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2001490	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2006997	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2012574	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2116367	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2272051	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272178	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421557	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421558	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421559	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421575	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2421672	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421674	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421675	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421676	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2421677	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2462127	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35498419	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35767294	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35791379	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3813228	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3980695	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4241257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4358149	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4513320	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4530394	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4852316	0.89[EUR][1000 genomes]
rs4852972	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4852975	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4852976	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4852977	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4852978	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6732812	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6748233	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6749841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750494	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750515	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750877	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6755500	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7210	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs732778	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7368570	0.87[AMR][1000 genomes]
rs7370393	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7422438	0.80[AMR][1000 genomes]
rs7558546	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7591112	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7597302	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7599453	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs891695	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891696	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309476	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10208995	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs10208995	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs10208995	ALMS1P	cis	Nerve Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73964600-74005400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:73965000-73978800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:73965000-73993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:73965400-73982200	Weak transcription	Hela-S3	cervix
5	chr2:73965400-73985600	Weak transcription	Fetal Heart	heart
6	chr2:73965400-73986200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:73965400-73986600	Weak transcription	Psoas Muscle	Psoas
8	chr2:73966200-73992000	Weak transcription	Stomach Mucosa	stomach
9	chr2:73967600-73978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:73969400-73977000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:73969400-73983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:73969400-73987200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:73969600-73986000	Weak transcription	Right Ventricle	heart
14	chr2:73969800-73982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:73969800-73982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:73970400-73981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:73971000-73976200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:73971400-74002200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:73971600-73987000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:73972000-73978800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:73972000-73992200	Weak transcription	Fetal Kidney	kidney
22	chr2:73973200-73980800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:73973200-73980800	Strong transcription	GM12878-XiMat	blood
24	chr2:73973400-73982200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:73973400-73987400	Weak transcription	Colonic Mucosa	Colon
26	chr2:73973600-73978200	Weak transcription	HepG2	liver
27	chr2:73973800-73977000	Weak transcription	Lung	lung
28	chr2:73973800-73977200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:73973800-73977400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:73973800-73978000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:73973800-73978000	Weak transcription	Gastric	stomach
32	chr2:73973800-73978400	Weak transcription	Dnd41	blood
33	chr2:73973800-73979000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:73973800-73979600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:73973800-73981000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:73973800-73982200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:73974000-73976400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:73974000-73977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:73974000-73977400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:73974000-73977400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:73974000-73977600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:73974000-73977800	Weak transcription	Ovary	ovary
43	chr2:73974000-73978400	Weak transcription	Fetal Brain Female	brain
44	chr2:73974000-73978800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:73974000-73979000	Weak transcription	Spleen	Spleen
46	chr2:73974000-73979200	Weak transcription	Fetal Lung	lung
47	chr2:73974000-73979200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:73974000-73979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:73974000-73983400	Weak transcription	Pancreas	Pancrea
50	chr2:73974000-73984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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