Variant report

Variant	rs2026429
Chromosome Location	chr1:197079671-197079672
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1034162	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10429911	0.87[CEU][hapmap]
rs10732295	0.87[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10732296	0.87[CEU][hapmap]
rs10733087	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10737687	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10754213	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754214	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754215	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754219	0.87[CEU][hapmap]
rs10801587	1.00[EUR][1000 genomes]
rs10801588	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801590	1.00[EUR][1000 genomes]
rs10801591	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10922165	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10922166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10922169	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1115246	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1115247	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1170878	0.86[EUR][1000 genomes]
rs1170880	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs1170881	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1170882	0.86[EUR][1000 genomes]
rs1170883	0.86[EUR][1000 genomes]
rs12039586	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12092294	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs12677	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12731209	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1332662	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1332663	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1332669	0.96[EUR][1000 genomes]
rs1412631	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412632	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412633	1.00[EUR][1000 genomes]
rs1412634	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1412639	0.96[EUR][1000 genomes]
rs1415217	0.87[CEU][hapmap]
rs1537319	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1556763	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs1571964	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1576878	0.96[EUR][1000 genomes]
rs1627765	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759006	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759007	1.00[EUR][1000 genomes]
rs1759008	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759009	1.00[EUR][1000 genomes]
rs1759013	1.00[EUR][1000 genomes]
rs1764800	0.87[CEU][hapmap]
rs1794003	1.00[EUR][1000 genomes]
rs1794010	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1855116	0.86[EUR][1000 genomes]
rs1888991	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1953064	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151133	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151134	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2151135	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2336595	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2336597	0.96[EUR][1000 genomes]
rs3891964	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4342879	0.87[CEU][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs4350226	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs4556392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs476390	0.87[CEU][hapmap]
rs4915148	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915156	1.00[EUR][1000 genomes]
rs4915313	1.00[EUR][1000 genomes]
rs4915315	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915316	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915337	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915345	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915378	0.83[ASW][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap]
rs4915379	0.89[ASW][hapmap];0.87[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap]
rs5029273	0.84[YRI][hapmap]
rs510135	0.87[CEU][hapmap]
rs518149	0.87[CEU][hapmap]
rs5997	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6003	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs615647	0.87[CEU][hapmap]
rs616675	0.86[CEU][hapmap]
rs6428387	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656448	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs6656858	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657171	0.86[EUR][1000 genomes]
rs6657246	0.86[EUR][1000 genomes]
rs6671696	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677082	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6679189	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6680497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685259	1.00[EUR][1000 genomes]
rs6694672	0.86[EUR][1000 genomes]
rs6694853	0.86[EUR][1000 genomes]
rs6695300	0.93[EUR][1000 genomes]
rs6702340	0.86[EUR][1000 genomes]
rs6703400	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411719	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513826	0.87[CEU][hapmap]
rs7516700	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7520503	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs7523013	0.87[CEU][hapmap]
rs7534353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7539642	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541429	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7542397	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7554757	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs857017	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857020	0.93[EUR][1000 genomes]
rs857021	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857022	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857023	0.96[EUR][1000 genomes]
rs857026	0.96[EUR][1000 genomes]
rs857027	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs865071	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs877897	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs928439	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs928440	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9427660	1.00[CEU][hapmap]
rs9427661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9427662	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9427942	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9726778	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
2	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
5	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:197070800-197085400	Weak transcription	Osteobl	bone
10	chr1:197071000-197084400	Weak transcription	Fetal Heart	heart
11	chr1:197071000-197105400	Strong transcription	Dnd41	blood
12	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:197072600-197087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:197073800-197083400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:197073800-197085200	Weak transcription	GM12878-XiMat	blood
22	chr1:197073800-197091400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:197074000-197080000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:197074000-197085400	Weak transcription	HepG2	liver
25	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
26	chr1:197074200-197085000	Weak transcription	NHDF-Ad	bronchial
27	chr1:197074200-197091400	Weak transcription	NHEK	skin
28	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:197074800-197082200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:197076400-197080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:197076400-197081200	Weak transcription	Thymus	Thymus
33	chr1:197076400-197085200	Weak transcription	NH-A	brain
34	chr1:197076400-197096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:197076600-197081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:197076600-197084200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:197076600-197085200	Weak transcription	HMEC	breast
38	chr1:197076800-197081800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:197077000-197080400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:197077000-197085400	Weak transcription	K562	blood
41	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:197077200-197082000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:197077200-197083400	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:197077200-197083800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:197077200-197090800	Weak transcription	NHLF	lung
46	chr1:197077400-197083000	Weak transcription	Fetal Lung	lung
47	chr1:197077600-197083600	Weak transcription	HUVEC	blood vessel
48	chr1:197077800-197083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:197077800-197083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:197077800-197084400	Weak transcription	HSMM	muscle

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