Variant report

Variant	rs721717
Chromosome Location	chr7:66130292-66130293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66117820..66120556-chr7:66129006..66130726,2	MCF-7	breast:
2	chr7:66118854..66122954-chr7:66127904..66133734,8	K562	blood:
3	chr7:66117974..66122051-chr7:66130047..66133734,5	K562	blood:
4	chr6:27100755..27103538-chr7:66129131..66132077,2	K562	blood:
5	chr7:66125049..66126880-chr7:66129177..66130739,2	K562	blood:

Variant related genes	Relation type
ENSG00000226824	Chromatin interaction
ENSG00000196787	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 20 )

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

rs_ID	r²[population]
rs10107	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10233806	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10244498	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10265311	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271548	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10274883	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278014	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10950043	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10950046	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950049	0.84[AFR][1000 genomes]
rs10950050	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11761542	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11765791	0.86[ASN][1000 genomes]
rs11772819	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11772884	0.80[AMR][1000 genomes]
rs12333370	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12673450	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698526	0.88[ASN][1000 genomes]
rs13226170	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13226966	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13232191	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13240501	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13242290	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13308803	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13536	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1544549	0.92[AFR][1000 genomes]
rs1623000	0.88[ASN][1000 genomes]
rs17747530	0.88[ASN][1000 genomes]
rs1860469	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860472	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1968126	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2003300	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2013908	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024192	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109295	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2109297	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420610	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420611	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420820	0.92[AFR][1000 genomes]
rs2420821	0.85[AMR][1000 genomes]
rs2659890	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659891	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659892	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659893	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2659894	0.85[AFR][1000 genomes]
rs2659895	0.85[AFR][1000 genomes]
rs2659896	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659897	0.85[AFR][1000 genomes]
rs2659898	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2659900	0.87[AFR][1000 genomes]
rs2659901	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659904	0.87[AFR][1000 genomes]
rs2659907	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2659908	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2659914	0.80[AMR][1000 genomes]
rs2707824	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707837	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2707839	0.85[AFR][1000 genomes]
rs2707847	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28431318	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28480509	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714531	0.88[ASN][1000 genomes]
rs28731376	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35378740	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3846973	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857685	0.86[ASN][1000 genomes]
rs3926380	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4506088	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4610622	0.84[AFR][1000 genomes]
rs4717315	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718377	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718383	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58347342	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61348003	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460303	0.88[ASN][1000 genomes]
rs66981195	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6951302	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951946	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955837	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6958200	0.85[AFR][1000 genomes]
rs6969679	0.83[AFR][1000 genomes]
rs6971059	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6973249	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6975044	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6978178	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7384021	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7385102	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7782587	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793723	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7800620	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7805152	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808013	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs801194	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801195	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs801202	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801203	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801204	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801206	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801208	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs801209	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs801215	0.86[ASN][1000 genomes]
rs881285	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974239	0.85[AFR][1000 genomes]
rs9791712	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791713	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs721717	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs721717	GS1-124K5.11	cis	Thyroid	GTEx
rs721717	GS1-124K5.4	cis	Stomach	GTEx
rs721717	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs721717	GS1-124K5.2	cis	Whole Blood	GTEx
rs721717	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs721717	RP4-756H11.3	cis	Artery Tibial	GTEx
rs721717	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs721717	RNU6-96P	cis	Thyroid	GTEx
rs721717	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs721717	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs721717	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs721717	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs721717	LINC00174	cis	Thyroid	GTEx
rs721717	RP4-756H11.3	cis	lung	GTEx
rs721717	GTF2IRD1P1	cis	Thyroid	GTEx
rs721717	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs721717	RP4-756H11.3	cis	Thyroid	GTEx
rs721717	GS1-124K5.4	cis	Artery Aorta	GTEx
rs721717	RP4-756H11.3	cis	Artery Aorta	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120600-66132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
3	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:66120800-66132000	Weak transcription	Fetal Brain Female	brain
5	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
6	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:66121200-66130600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:66121200-66131400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:66121200-66137800	Weak transcription	HMEC	breast
15	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:66121600-66131800	Weak transcription	Right Ventricle	heart
19	chr7:66121600-66132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:66121600-66133200	Weak transcription	Osteobl	bone
21	chr7:66121600-66133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:66121600-66133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:66121600-66133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:66121600-66133400	Weak transcription	NHEK	skin
25	chr7:66121600-66133400	Weak transcription	NHLF	lung
26	chr7:66121600-66137800	Weak transcription	NH-A	brain
27	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle
31	chr7:66121800-66134600	Weak transcription	Ovary	ovary
32	chr7:66121800-66144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:66122200-66138200	Weak transcription	NHDF-Ad	bronchial
34	chr7:66122400-66133400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:66122400-66134400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:66122600-66146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:66127800-66132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:66127800-66135800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:66127800-66136800	Weak transcription	Hela-S3	cervix
40	chr7:66127800-66146000	Weak transcription	A549	lung
41	chr7:66128000-66131000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:66128000-66132000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:66128000-66132400	Weak transcription	Placenta	Placenta
44	chr7:66128000-66133200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:66128000-66133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:66128000-66133200	Weak transcription	HepG2	liver
47	chr7:66128000-66133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:66128000-66133400	Weak transcription	Esophagus	oesophagus
49	chr7:66128000-66133400	Weak transcription	Gastric	stomach
50	chr7:66128000-66133400	Weak transcription	Dnd41	blood

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