Variant report

Variant	rs7805152
Chromosome Location	chr7:66209253-66209254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr7:66208728-66209270	PBDE	blood:	n/a	chr7:66208963-66208972 chr7:66208960-66208976 chr7:66208963-66208973 chr7:66208962-66208974

No.	Distal block	Cell Line	Cell type
1	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
2	chr7:66118228..66120742-chr7:66209055..66211057,2	MCF-7	breast:
3	chr7:66209147..66212594-chr7:66215527..66217393,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272831	TF binding region
ENSG00000271064	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10107	0.86[EUR][1000 genomes]
rs1016265	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10265311	0.82[EUR][1000 genomes]
rs10274883	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10278014	0.89[EUR][1000 genomes]
rs10950046	0.87[EUR][1000 genomes]
rs10950049	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10950050	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11761542	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11772819	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12333370	0.92[EUR][1000 genomes]
rs12673450	0.85[EUR][1000 genomes]
rs13226170	0.82[EUR][1000 genomes]
rs13226966	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13240501	0.86[EUR][1000 genomes]
rs13242290	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13308803	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13536	0.86[EUR][1000 genomes]
rs1860469	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1860472	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1968126	0.85[EUR][1000 genomes]
rs2003300	0.84[AFR][1000 genomes]
rs2013908	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2024192	0.88[EUR][1000 genomes]
rs2109295	0.82[EUR][1000 genomes]
rs2109297	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420610	0.81[EUR][1000 genomes]
rs2420611	0.82[EUR][1000 genomes]
rs2659890	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2659891	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2659892	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2659893	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2659894	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2659895	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2659896	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659897	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2659898	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2659900	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2659901	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2659904	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2659907	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2659908	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707824	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2707837	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707839	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2707847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28431318	0.84[EUR][1000 genomes]
rs28480509	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28731376	0.86[EUR][1000 genomes]
rs3846973	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3926380	0.92[EUR][1000 genomes]
rs4506088	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4610622	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4717315	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4718377	0.89[EUR][1000 genomes]
rs4718383	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58347342	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61348003	0.81[EUR][1000 genomes]
rs66981195	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6951302	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6951946	0.88[EUR][1000 genomes]
rs6955837	0.89[EUR][1000 genomes]
rs6969679	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6971059	0.89[EUR][1000 genomes]
rs6973249	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6975044	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6978178	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs721717	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7384021	0.91[EUR][1000 genomes]
rs7385102	0.85[EUR][1000 genomes]
rs7782587	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793723	0.83[EUR][1000 genomes]
rs7800620	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7808013	0.90[EUR][1000 genomes]
rs801194	0.88[EUR][1000 genomes]
rs801195	0.87[EUR][1000 genomes]
rs801202	0.86[EUR][1000 genomes]
rs801203	0.86[EUR][1000 genomes]
rs801204	0.86[EUR][1000 genomes]
rs801206	0.86[EUR][1000 genomes]
rs801208	0.86[EUR][1000 genomes]
rs801209	0.86[EUR][1000 genomes]
rs881285	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs974239	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9791712	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9791713	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv970871	chr7:66206610-66210233	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7805152	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs7805152	GS1-124K5.4	cis	Artery Aorta	GTEx
rs7805152	GS1-124K5.2	cis	Whole Blood	GTEx
rs7805152	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs7805152	GS1-124K5.11	cis	Thyroid	GTEx
rs7805152	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs7805152	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs7805152	RP4-756H11.3	cis	Artery Tibial	GTEx
rs7805152	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs7805152	GTF2IRD1P1	cis	Thyroid	GTEx
rs7805152	LINC00174	cis	Thyroid	GTEx
rs7805152	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs7805152	RNU6-96P	cis	Thyroid	GTEx
rs7805152	GS1-124K5.4	cis	Stomach	GTEx
rs7805152	RP4-756H11.3	cis	Artery Aorta	GTEx
rs7805152	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs7805152	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs7805152	RP4-756H11.3	cis	Thyroid	GTEx
rs7805152	RP4-756H11.3	cis	lung	GTEx
rs7805152	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206400-66216600	Weak transcription	Spleen	Spleen
2	chr7:66206800-66210600	Weak transcription	Fetal Heart	heart
3	chr7:66206800-66212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66206800-66213600	Weak transcription	Small Intestine	intestine
5	chr7:66206800-66216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
9	chr7:66207000-66209800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:66207000-66210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66207000-66211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:66207000-66213000	Weak transcription	Psoas Muscle	Psoas
13	chr7:66207000-66213800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:66207000-66213800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:66207000-66216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:66207000-66216400	Weak transcription	Right Atrium	heart
17	chr7:66207000-66216600	Weak transcription	Esophagus	oesophagus
18	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
21	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
24	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:66207200-66212400	Weak transcription	Fetal Brain Female	brain
28	chr7:66207200-66212800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:66207200-66213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:66207200-66213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66207400-66210200	Weak transcription	GM12878-XiMat	blood
33	chr7:66207400-66212200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:66207400-66212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:66207400-66213200	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:66207600-66209400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:66207600-66210200	Weak transcription	Fetal Lung	lung
38	chr7:66207600-66212200	Weak transcription	Liver	Liver
39	chr7:66207600-66212200	Weak transcription	Brain Anterior Caudate	brain
40	chr7:66207600-66212200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:66207600-66213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:66207600-66213800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66207600-66214000	Weak transcription	Gastric	stomach
44	chr7:66207600-66220400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:66207600-66220400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:66207600-66223400	Weak transcription	K562	blood
48	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:66207800-66212000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:66207800-66212200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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