Variant report

Variant	rs35130766
Chromosome Location	chr7:66210007-66210008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66118228..66120742-chr7:66209055..66211057,2	MCF-7	breast:
2	chr7:66203955..66208659-chr7:66209716..66215353,8	K562	blood:
3	chr7:66209147..66212594-chr7:66215527..66217393,3	MCF-7	breast:
4	chr7:66204257..66207102-chr7:66209621..66212224,4	MCF-7	breast:
5	chr7:66209588..66211104-chr7:66309557..66311367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10215132	0.84[EUR][1000 genomes]
rs10215516	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234018	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249404	0.85[EUR][1000 genomes]
rs10252765	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10263935	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10272357	0.85[EUR][1000 genomes]
rs10272546	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10274773	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10278371	0.85[EUR][1000 genomes]
rs10278816	0.85[EUR][1000 genomes]
rs10281080	0.85[EUR][1000 genomes]
rs10950044	0.85[EUR][1000 genomes]
rs1110414	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765356	0.85[EUR][1000 genomes]
rs11766262	0.83[EUR][1000 genomes]
rs11768727	0.94[EUR][1000 genomes]
rs11772264	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11772636	0.93[EUR][1000 genomes]
rs11773829	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13227951	0.84[EUR][1000 genomes]
rs1553609	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553610	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17566701	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1860468	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1860470	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961155	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1968127	0.85[EUR][1000 genomes]
rs2003301	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2013222	0.85[EUR][1000 genomes]
rs2055682	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191268	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286683	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286684	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420824	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420827	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659888	0.82[ASN][1000 genomes]
rs2659889	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2659899	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659906	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659909	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659912	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659915	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2659916	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2707822	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707827	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707836	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707841	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707845	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707848	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2707849	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707850	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707852	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707853	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707854	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707856	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28830215	0.86[EUR][1000 genomes]
rs3069894	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34356500	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35526611	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35986979	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3764903	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3778909	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800812	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800820	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3800823	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857686	0.85[EUR][1000 genomes]
rs3857688	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3898855	0.85[EUR][1000 genomes]
rs4279493	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4717310	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717319	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718403	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718405	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56229325	0.82[EUR][1000 genomes]
rs62466793	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466794	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62467857	0.90[EUR][1000 genomes]
rs6460305	0.85[EUR][1000 genomes]
rs6460308	0.88[EUR][1000 genomes]
rs6943696	0.85[EUR][1000 genomes]
rs6949912	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6958520	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6960778	0.87[EUR][1000 genomes]
rs6965056	0.85[EUR][1000 genomes]
rs6979488	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71563125	0.85[EUR][1000 genomes]
rs7357230	0.83[EUR][1000 genomes]
rs7779971	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7782320	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7783924	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7785213	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7788576	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7789184	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789419	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7793569	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7807930	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7807944	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs801190	0.85[EUR][1000 genomes]
rs801193	0.85[EUR][1000 genomes]
rs9791890	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs35130766	RP4-756H11.3	cis	Artery Tibial	GTEx
rs35130766	RP4-756H11.3	cis	Thyroid	GTEx
rs35130766	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs35130766	RP4-756H11.3	cis	Stomach	GTEx
rs35130766	RP4-756H11.3	cis	Artery Aorta	GTEx
rs35130766	RP4-756H11.3	cis	lung	GTEx
rs35130766	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs35130766	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs35130766	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs35130766	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs35130766	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs35130766	RP4-756H11.3	cis	Nerve Tibial	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	chr7:66207000-66210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:66207000-66211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:66207000-66213000	Weak transcription	Psoas Muscle	Psoas
12	chr7:66207000-66213800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66207000-66213800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:66207000-66216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:66207000-66216400	Weak transcription	Right Atrium	heart
16	chr7:66207000-66216600	Weak transcription	Esophagus	oesophagus
17	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
20	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
21	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
23	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:66207200-66212400	Weak transcription	Fetal Brain Female	brain
27	chr7:66207200-66212800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:66207200-66213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:66207200-66213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:66207400-66210200	Weak transcription	GM12878-XiMat	blood
32	chr7:66207400-66212200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:66207400-66212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:66207400-66213200	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:66207600-66210200	Weak transcription	Fetal Lung	lung
36	chr7:66207600-66212200	Weak transcription	Liver	Liver
37	chr7:66207600-66212200	Weak transcription	Brain Anterior Caudate	brain
38	chr7:66207600-66212200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:66207600-66213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:66207600-66213800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:66207600-66214000	Weak transcription	Gastric	stomach
42	chr7:66207600-66220400	Weak transcription	Brain Angular Gyrus	brain
43	chr7:66207600-66220400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:66207600-66223400	Weak transcription	K562	blood
46	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:66207800-66212000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:66207800-66212200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:66207800-66219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:66207800-66220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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