Variant report

Variant	rs2712215
Chromosome Location	chr7:107188207-107188208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107188089..107190681-chr7:107220054..107222160,2	MCF-7	breast:
2	chr7:107182408..107183981-chr7:107186639..107188614,2	K562	blood:

Variant related genes	Relation type
ENSG00000272854	Chromatin interaction
ENSG00000075790	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1015411	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10224503	0.85[ASN][1000 genomes]
rs10234355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10237948	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10243340	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10245210	0.89[ASN][1000 genomes]
rs10248717	0.81[EUR][1000 genomes]
rs10251808	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10258385	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10264412	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10267907	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10273733	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10274041	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10276604	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281535	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11535285	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11977187	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12667527	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12668402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673675	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468336	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1544336	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17154077	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17154091	0.90[ASN][1000 genomes]
rs17154104	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2023685	0.93[ASN][1000 genomes]
rs2057837	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066735	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107713	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178497	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2189839	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237670	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237671	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2237672	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237673	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237676	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237677	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237678	0.97[ASN][1000 genomes]
rs2250414	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253146	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253269	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253271	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253833	0.97[ASN][1000 genomes]
rs2293658	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2395882	0.90[ASN][1000 genomes]
rs2395883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2395907	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520241	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520242	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520243	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520245	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520246	0.92[ASN][1000 genomes]
rs2520247	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520249	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2520250	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2520251	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520252	0.93[ASN][1000 genomes]
rs2520256	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2520260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520263	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520264	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520265	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520268	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520269	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520271	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520277	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712189	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712191	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2712193	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712195	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2712196	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2712197	0.91[ASN][1000 genomes]
rs2712199	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712200	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712201	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712214	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712224	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2807	0.90[ASN][1000 genomes]
rs2808	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28687365	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28714607	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2894466	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2894475	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3094383	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34325395	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3779494	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779495	0.94[ASN][1000 genomes]
rs3801944	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801948	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801954	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4727678	0.89[ASN][1000 genomes]
rs4727679	0.90[ASN][1000 genomes]
rs4727680	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727681	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727684	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730245	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56967324	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57452492	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58052742	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58391518	0.82[AMR][1000 genomes]
rs62482543	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483722	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62483723	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483725	0.97[ASN][1000 genomes]
rs62483727	0.97[ASN][1000 genomes]
rs67982599	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976607	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7778250	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7778270	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782057	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786801	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790534	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7793613	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803102	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809950	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs986994	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs987391	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2712215	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107154000-107193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
4	chr7:107166600-107194600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
7	chr7:107178600-107194200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:107178800-107194400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:107182800-107188400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:107183000-107188600	Strong transcription	Hela-S3	cervix
12	chr7:107183200-107188400	Strong transcription	Dnd41	blood
13	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:107183600-107189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:107183800-107188600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:107184200-107188400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:107184400-107189000	Strong transcription	Fetal Thymus	thymus
18	chr7:107184600-107195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:107184800-107188600	Strong transcription	Liver	Liver
20	chr7:107185000-107200200	Weak transcription	Pancreas	Pancrea
21	chr7:107185000-107203600	Weak transcription	Gastric	stomach
22	chr7:107185200-107188400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:107185200-107189000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:107185200-107193200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:107185200-107193400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:107185200-107194400	Weak transcription	Aorta	Aorta
27	chr7:107185200-107199800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:107185600-107194600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:107186000-107188600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:107186000-107189000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:107186000-107194000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:107186000-107194600	Weak transcription	Fetal Brain Female	brain
35	chr7:107186000-107194600	Weak transcription	HSMMtube	muscle
36	chr7:107186000-107195400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:107186000-107196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:107186000-107196400	Weak transcription	Right Ventricle	heart
39	chr7:107186000-107200000	Weak transcription	Stomach Mucosa	stomach
40	chr7:107186000-107200200	Weak transcription	NHLF	lung
41	chr7:107186000-107203000	Weak transcription	Brain Germinal Matrix	brain
42	chr7:107186000-107203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:107186200-107188600	Strong transcription	Adipose Nuclei	Adipose
44	chr7:107186200-107188800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:107186200-107190600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:107186200-107191600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:107186200-107194400	Weak transcription	Ovary	ovary
48	chr7:107186200-107194600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:107186200-107194600	Weak transcription	Thymus	Thymus
50	chr7:107186200-107194600	Weak transcription	Spleen	Spleen

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