Variant report

Variant	rs7627654
Chromosome Location	chr3:134211036-134211037
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134201308..134204290-chr3:134208697..134211507,3	K562	blood:
2	chr3:134030532..134033438-chr3:134208777..134211610,2	MCF-7	breast:
3	chr3:134202973..134206130-chr3:134210645..134215356,7	MCF-7	breast:
4	chr3:134026993..134027640-chr3:134210825..134211549,2	K562	blood:
5	chr3:134210845..134213496-chr3:134218245..134220110,2	MCF-7	breast:
6	chr3:133968926..133970560-chr3:134210057..134211714,2	MCF-7	breast:
7	chr3:134209724..134212425-chr3:134275808..134277795,2	MCF-7	breast:
8	chr3:134210513..134212228-chr3:134265395..134267023,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182923	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000163785	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10935120	0.86[EUR][1000 genomes]
rs1138273	0.85[EUR][1000 genomes]
rs11706117	0.86[EUR][1000 genomes]
rs11708531	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11919350	0.85[EUR][1000 genomes]
rs11927068	0.84[EUR][1000 genomes]
rs11928499	0.85[EUR][1000 genomes]
rs12490835	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12492930	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12637751	0.84[EUR][1000 genomes]
rs13059720	0.85[EUR][1000 genomes]
rs13065405	0.85[EUR][1000 genomes]
rs13081177	0.80[EUR][1000 genomes]
rs13081688	0.85[EUR][1000 genomes]
rs13087875	0.85[EUR][1000 genomes]
rs13096604	0.85[EUR][1000 genomes]
rs13316205	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1357762	0.85[EUR][1000 genomes]
rs1498718	0.87[EUR][1000 genomes]
rs1534026	0.80[EUR][1000 genomes]
rs1534027	0.80[EUR][1000 genomes]
rs1534028	0.80[EUR][1000 genomes]
rs17694011	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1814336	0.86[EUR][1000 genomes]
rs1814337	0.87[EUR][1000 genomes]
rs1863912	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1863913	0.87[EUR][1000 genomes]
rs1874883	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1880376	0.84[EUR][1000 genomes]
rs1880377	0.84[EUR][1000 genomes]
rs2177601	0.85[EUR][1000 genomes]
rs2177602	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2370578	0.86[EUR][1000 genomes]
rs2370641	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2370642	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28409322	0.83[EUR][1000 genomes]
rs28702610	0.81[EUR][1000 genomes]
rs2887797	0.86[EUR][1000 genomes]
rs35933983	0.83[EUR][1000 genomes]
rs3846055	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3846056	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3856729	0.86[EUR][1000 genomes]
rs3932818	0.87[EUR][1000 genomes]
rs4309773	0.80[EUR][1000 genomes]
rs4367113	0.80[EUR][1000 genomes]
rs4498009	0.85[EUR][1000 genomes]
rs4955555	0.80[EUR][1000 genomes]
rs4974478	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4974481	0.84[EUR][1000 genomes]
rs4974483	0.87[EUR][1000 genomes]
rs4974484	0.86[EUR][1000 genomes]
rs4974493	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs55913793	0.80[EUR][1000 genomes]
rs62269547	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6439484	0.86[EUR][1000 genomes]
rs6439487	0.86[EUR][1000 genomes]
rs6763088	0.85[EUR][1000 genomes]
rs6763093	0.85[EUR][1000 genomes]
rs6765505	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6766818	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6766897	0.82[EUR][1000 genomes]
rs6768323	0.84[EUR][1000 genomes]
rs6769885	0.80[EUR][1000 genomes]
rs6772406	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6772896	0.86[EUR][1000 genomes]
rs6776203	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6782128	0.80[EUR][1000 genomes]
rs6785027	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6787371	0.85[EUR][1000 genomes]
rs6790338	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6790466	0.84[EUR][1000 genomes]
rs6799110	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6799543	0.86[EUR][1000 genomes]
rs6800862	0.87[EUR][1000 genomes]
rs6801596	0.84[EUR][1000 genomes]
rs6802654	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6804770	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6806417	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7356093	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7371896	0.86[EUR][1000 genomes]
rs7373874	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7374158	0.85[EUR][1000 genomes]
rs7427492	0.85[EUR][1000 genomes]
rs7428326	0.83[EUR][1000 genomes]
rs7429866	0.85[EUR][1000 genomes]
rs7432268	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7433663	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7611828	0.85[EUR][1000 genomes]
rs7619451	0.85[EUR][1000 genomes]
rs7627726	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7637227	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7648990	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7649910	0.80[EUR][1000 genomes]
rs9289471	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9289475	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9289476	0.86[EUR][1000 genomes]
rs9289478	0.85[EUR][1000 genomes]
rs934093	0.85[EUR][1000 genomes]
rs9809619	0.80[EUR][1000 genomes]
rs9813774	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9814567	0.86[EUR][1000 genomes]
rs9815297	0.87[EUR][1000 genomes]
rs9815894	0.80[EUR][1000 genomes]
rs9815983	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9819532	0.80[EUR][1000 genomes]
rs9820150	0.85[EUR][1000 genomes]
rs9820425	0.85[EUR][1000 genomes]
rs9826496	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9827672	0.81[EUR][1000 genomes]
rs9828815	0.84[EUR][1000 genomes]
rs9829092	0.85[EUR][1000 genomes]
rs9832785	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9833753	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9834755	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9835204	0.86[EUR][1000 genomes]
rs9838834	0.87[EUR][1000 genomes]
rs9841180	0.80[EUR][1000 genomes]
rs9841212	0.82[EUR][1000 genomes]
rs9844537	0.86[EUR][1000 genomes]
rs9850015	0.84[EUR][1000 genomes]
rs9854299	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9855013	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9863786	0.85[EUR][1000 genomes]
rs9869981	0.85[EUR][1000 genomes]
rs9870262	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9871305	0.86[EUR][1000 genomes]
rs9883753	0.85[EUR][1000 genomes]
rs9884031	0.86[EUR][1000 genomes]
rs9968172	0.85[EUR][1000 genomes]
rs9985341	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9985356	0.85[EUR][1000 genomes]
rs9989967	0.86[EUR][1000 genomes]
rs9990351	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers 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	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs7627654	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs7627654	ANAPC13	cis	Esophagus Mucosa	GTEx
rs7627654	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs7627654	ANAPC13	cis	Artery Aorta	GTEx
rs7627654	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs7627654	ANAPC13	cis	lung	GTEx
rs7627654	ANAPC13	cis	Artery Tibial	GTEx
rs7627654	CEP63	cis	Esophagus Muscularis	GTEx
rs7627654	CEP63	cis	Esophagus Mucosa	GTEx
rs7627654	CEP63	cis	Nerve Tibial	GTEx
rs7627654	ANAPC13	cis	Stomach	GTEx
rs7627654	CEP63	cis	Muscle Skeletal	GTEx
rs7627654	CEP63	cis	lung	GTEx
rs7627654	CEP63	cis	Artery Tibial	GTEx
rs7627654	ANAPC13	cis	Thyroid	GTEx
rs7627654	ANAPC13	cis	Nerve Tibial	GTEx
rs7627654	ANAPC13	cis	Esophagus Muscularis	GTEx
rs7627654	ANAPC13	cis	Whole Blood	GTEx
rs7627654	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs7627654	ANAPC13	cis	Heart Left Ventricle	GTEx
rs7627654	ANAPC13	cis	Muscle Skeletal	GTEx
rs7627654	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134205600-134224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:134205800-134224200	Weak transcription	Esophagus	oesophagus
3	chr3:134205800-134224200	Weak transcription	Left Ventricle	heart
4	chr3:134205800-134224200	Weak transcription	Lung	lung
5	chr3:134205800-134224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:134206000-134214800	Weak transcription	HSMM	muscle
7	chr3:134206000-134215000	Weak transcription	Placenta	Placenta
8	chr3:134206000-134224200	Weak transcription	Ovary	ovary
9	chr3:134206400-134211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:134206400-134214400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:134206400-134223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:134206400-134228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:134206400-134234600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:134206400-134241200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:134206600-134212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:134206600-134213200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:134206600-134213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:134206600-134214400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:134206600-134214400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:134206600-134214400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:134206600-134215000	Weak transcription	Fetal Stomach	stomach
22	chr3:134206600-134215000	Weak transcription	HMEC	breast
23	chr3:134206600-134217000	Weak transcription	Fetal Kidney	kidney
24	chr3:134206600-134226000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:134206600-134230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:134206600-134232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
28	chr3:134206800-134213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:134206800-134214400	Weak transcription	Fetal Intestine Large	intestine
30	chr3:134206800-134214400	Weak transcription	Fetal Lung	lung
31	chr3:134206800-134214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:134206800-134214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:134206800-134214800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:134206800-134215200	Weak transcription	Brain Substantia Nigra	brain
35	chr3:134206800-134215600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:134206800-134221000	Weak transcription	Brain Anterior Caudate	brain
37	chr3:134206800-134221400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:134206800-134236400	Weak transcription	Hela-S3	cervix
39	chr3:134207000-134211200	Weak transcription	HUVEC	blood vessel
40	chr3:134207000-134213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:134207000-134213800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:134207000-134214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:134207000-134214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:134207000-134214400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:134207000-134214400	Weak transcription	K562	blood
46	chr3:134207000-134214400	Weak transcription	NHDF-Ad	bronchial
47	chr3:134207000-134214400	Weak transcription	Osteobl	bone
48	chr3:134207000-134214600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:134207000-134214600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:134207000-134214600	Weak transcription	Adipose Nuclei	Adipose

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