Variant report

Variant	rs7570978
Chromosome Location	chr2:99896985-99896986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1000409	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1011633	0.84[JPT][hapmap]
rs10172068	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10172752	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10187843	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10207981	0.90[JPT][hapmap]
rs1053544	0.84[JPT][hapmap]
rs10779902	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11123775	0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11123777	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123779	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123786	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11676581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683651	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11685870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686535	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11687328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687870	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs11884686	0.85[JPT][hapmap]
rs11892441	0.85[JPT][hapmap]
rs11892472	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11895206	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11897443	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11899745	0.84[JPT][hapmap]
rs11902994	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12464785	0.84[JPT][hapmap]
rs12611687	0.87[AMR][1000 genomes]
rs12615519	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12621141	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12623540	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13004376	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13007100	0.90[EUR][1000 genomes]
rs13008948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009863	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13009884	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010416	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011240	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13014360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13016182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017871	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13018274	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13019192	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13026997	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13033740	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451243	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1584647	0.85[JPT][hapmap]
rs1584648	0.85[JPT][hapmap]
rs17022433	0.86[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs17022629	0.85[JPT][hapmap]
rs1825770	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1955393	0.87[ASN][1000 genomes]
rs2242037	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs2290255	0.84[JPT][hapmap]
rs2290256	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2290257	0.85[JPT][hapmap]
rs2290261	0.84[JPT][hapmap]
rs2305354	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap]
rs2309585	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2309617	0.85[JPT][hapmap]
rs3087386	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs3749087	0.85[JPT][hapmap]
rs3791212	0.85[JPT][hapmap]
rs3792134	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs3792137	0.89[JPT][hapmap]
rs3792142	0.84[JPT][hapmap]
rs3792146	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3792149	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs3792152	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs3811555	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3828316	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4535093	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4850899	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4850901	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs4851200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4851205	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4851206	0.84[JPT][hapmap]
rs55867742	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55991925	0.85[ASN][1000 genomes]
rs59816625	0.87[ASN][1000 genomes]
rs6542879	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6542880	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6708861	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs6709240	0.80[ASN][1000 genomes]
rs6711977	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6721297	0.95[CHB][hapmap];0.96[YRI][hapmap]
rs6722617	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6732397	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6734290	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6735381	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6753588	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71413827	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs717454	0.84[JPT][hapmap]
rs74177687	0.85[AMR][1000 genomes]
rs7421284	0.86[ASN][1000 genomes]
rs7561079	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7561616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563462	0.85[JPT][hapmap]
rs7567674	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs7571202	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7574135	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7579403	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7580448	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7585019	0.84[JPT][hapmap]
rs7585721	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7587419	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7593274	0.85[JPT][hapmap]
rs7594838	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7597141	0.85[JPT][hapmap]
rs7601470	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7601730	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7609108	0.81[ASN][1000 genomes]
rs769105	0.84[JPT][hapmap]
rs896248	0.82[JPT][hapmap]
rs896249	0.85[JPT][hapmap]
rs901596	0.87[ASN][1000 genomes]
rs959929	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv515702	chr2:99827733-99922967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv458685	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv582519	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv874698	chr2:99827733-99924918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv1001784	chr2:99838079-99910328	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv535840	chr2:99838079-99910328	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv458696	chr2:99838203-99922967	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv582520	chr2:99838203-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv997436	chr2:99840131-99916886	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv1009872	chr2:99840131-99924543	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv1001194	chr2:99840131-99928323	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv2762746	chr2:99840143-99916898	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv1005118	chr2:99841951-99924543	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv1001736	chr2:99846306-99916886	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv1009459	chr2:99846306-99918895	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv1002169	chr2:99846306-99924543	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	esv2751904	chr2:99847882-99913998	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1001235	chr2:99847890-99913998	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv582521	chr2:99847890-99922967	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv1007566	chr2:99847890-99924543	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv999059	chr2:99847890-99926934	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv1007249	chr2:99855978-99916886	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1004291	chr2:99855978-99919999	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv1010419	chr2:99857259-99897312	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1003262	chr2:99858556-99924543	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7570978	REV1	cis	Thyroid	GTEx
rs7570978	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs7570978	LIPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99860400-99899800	Weak transcription	Psoas Muscle	Psoas
2	chr2:99861200-99900800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:99861800-99899400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:99873800-99900600	Weak transcription	Ovary	ovary
5	chr2:99879000-99933600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:99880400-99900000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:99880400-99907400	Weak transcription	Right Ventricle	heart
8	chr2:99889000-99906000	Weak transcription	Aorta	Aorta
9	chr2:99892400-99900000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:99892400-99900600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:99892400-99918600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:99892400-99935000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:99892600-99900000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:99892800-99900800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:99894000-99899400	Weak transcription	Left Ventricle	heart
16	chr2:99894000-99902400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:99894200-99934800	Weak transcription	Gastric	stomach
18	chr2:99894600-99900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:99895400-99935000	Weak transcription	Pancreas	Pancrea
20	chr2:99895600-99897200	ZNF genes & repeats	Fetal Brain Female	brain
21	chr2:99895600-99900000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:99895600-99900800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:99895600-99901200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:99895800-99897400	Enhancers	HepG2	liver
25	chr2:99895800-99900800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:99895800-99900800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:99895800-99914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:99895800-99921000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:99895800-99933600	Weak transcription	HSMM	muscle
30	chr2:99895800-99933600	Weak transcription	HSMMtube	muscle
31	chr2:99896000-99897800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:99896600-99897000	ZNF genes & repeats	A549	lung
33	chr2:99896600-99897600	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr2:99896800-99897000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr2:99896800-99897400	ZNF genes & repeats	Dnd41	blood
36	chr2:99896800-99900800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:99896800-99933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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