Variant report

Variant	rs2302918
Chromosome Location	chr7:66000932-66000933
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	chr7:66000362..66002580-chr7:66007526..66009182,2	MCF-7	breast:
2	chr7:65996716..65999287-chr7:66000647..66003151,2	K562	blood:

Variant related genes	Relation type
ENSG00000229180	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10215132	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229345	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10234018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10249404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10255377	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10263935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10272357	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10272546	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10274773	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10278371	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10278816	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10281080	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10950041	0.84[AFR][1000 genomes]
rs10950044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11765356	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11765965	0.94[YRI][hapmap]
rs11772264	0.82[ASN][1000 genomes]
rs11773829	0.81[EUR][1000 genomes]
rs12532998	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs12533585	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533997	0.82[AFR][1000 genomes]
rs12535036	0.83[AFR][1000 genomes]
rs12698523	0.83[AFR][1000 genomes]
rs12698532	0.86[AFR][1000 genomes]
rs12698534	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13224319	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13309022	0.82[AFR][1000 genomes]
rs1553610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs1643374	0.81[EUR][1000 genomes]
rs1860468	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1860470	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961155	0.84[ASN][1000 genomes]
rs1968127	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1968225	0.91[YRI][hapmap]
rs2003301	0.81[EUR][1000 genomes]
rs2013222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2077593	0.83[YRI][hapmap]
rs2191268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277911	0.83[AFR][1000 genomes]
rs2286683	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2286684	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2420824	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2420827	0.82[ASN][1000 genomes]
rs2659906	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2659909	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2659912	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659915	0.80[EUR][1000 genomes]
rs2707836	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707841	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2707849	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28698552	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28830215	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35410151	0.81[AFR][1000 genomes]
rs35526611	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35986979	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3735148	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs3764903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3800820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3857686	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857688	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3898855	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4717310	0.82[ASN][1000 genomes]
rs4718357	0.83[AFR][1000 genomes]
rs4718361	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718363	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56229325	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62465434	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467857	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460292	0.86[YRI][hapmap]
rs6460296	0.87[YRI][hapmap]
rs6460300	0.83[AFR][1000 genomes]
rs6460305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6460308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460309	0.85[ASN][1000 genomes]
rs6943696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945019	0.91[YRI][hapmap]
rs6945032	0.91[YRI][hapmap]
rs6947808	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs6949912	0.83[ASN][1000 genomes]
rs6952407	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs6957199	0.88[AFR][1000 genomes]
rs6958271	0.88[AFR][1000 genomes]
rs6958277	0.87[AFR][1000 genomes]
rs6958520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6960778	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6961186	0.83[AFR][1000 genomes]
rs6965056	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6970030	0.81[AFR][1000 genomes]
rs6970357	0.83[AFR][1000 genomes]
rs6970860	0.88[AFR][1000 genomes]
rs6978429	0.81[AFR][1000 genomes]
rs709595	0.83[YRI][hapmap]
rs71563125	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732465	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7357230	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7779971	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7785213	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs778722	0.91[YRI][hapmap]
rs7788576	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7789768	0.90[YRI][hapmap]
rs7793569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7807930	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7807944	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801190	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801191	0.83[AFR][1000 genomes]
rs801193	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801196	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801201	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs801205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801207	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs801211	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801216	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs810400	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9791890	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv967444	chr7:65992587-66013934	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2302918	RP4-756H11.3	cis	Stomach	GTEx
rs2302918	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs2302918	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs2302918	RP4-756H11.3	cis	lung	GTEx
rs2302918	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs2302918	RP4-756H11.3	cis	Thyroid	GTEx
rs2302918	RP4-756H11.3	cis	Artery Tibial	GTEx
rs2302918	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs2302918	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs2302918	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2302918	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs2302918	RP4-756H11.3	cis	Artery Aorta	GTEx
rs2302918	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain
2	chr7:65983400-66001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:65983400-66006000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:65985800-66006200	Weak transcription	Pancreas	Pancrea
5	chr7:65987800-66006200	Weak transcription	Gastric	stomach
6	chr7:65988400-66006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:65988600-66006200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:65988600-66009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:65988600-66009000	Weak transcription	HSMMtube	muscle
10	chr7:65988800-66008200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:65989000-66006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:65989000-66007600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:65989800-66004200	Weak transcription	Dnd41	blood
14	chr7:65990000-66009000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:65990600-66004000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:65990600-66005600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:65991200-66009800	Weak transcription	Small Intestine	intestine
18	chr7:65991400-66006200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:65991400-66006200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:65991600-66006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:65991800-66007600	Weak transcription	NH-A	brain
22	chr7:65992000-66005000	Weak transcription	Left Ventricle	heart
23	chr7:65992400-66006200	Weak transcription	Osteobl	bone
24	chr7:65992800-66001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:65993000-66006200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:65993400-66006200	Weak transcription	Colonic Mucosa	Colon
27	chr7:65993600-66006200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:65993600-66009000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:65993600-66009400	Weak transcription	HSMM	muscle
30	chr7:65993800-66006200	Weak transcription	NHEK	skin
31	chr7:65994000-66006200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:65994000-66008400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:65994000-66014400	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:65995000-66006200	Weak transcription	Right Ventricle	heart
35	chr7:65995000-66010000	Weak transcription	Fetal Lung	lung
36	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:65995200-66001200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:65995200-66009000	Weak transcription	Fetal Thymus	thymus
39	chr7:65995400-66002000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:65995400-66006200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:65995400-66006400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:65995400-66009000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:65995600-66002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:65995600-66004000	Weak transcription	Aorta	Aorta
45	chr7:65995600-66004800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:65995600-66006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:65995600-66006200	Weak transcription	Primary T cells from cord blood	blood
48	chr7:65995600-66006200	Weak transcription	Brain Anterior Caudate	brain
49	chr7:65995600-66006200	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:65995600-66006200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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