Variant report

Variant	rs4970708
Chromosome Location	chr1:92986514-92986515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92971064..92972652-chr1:92984833..92987598,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs1034219	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465754	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465756	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735778	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735779	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735783	0.89[ASN][1000 genomes]
rs10735784	0.89[ASN][1000 genomes]
rs10747411	0.82[AMR][1000 genomes]
rs10747444	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10747445	0.89[ASN][1000 genomes]
rs10782922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782935	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10874656	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874712	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10874715	0.89[ASN][1000 genomes]
rs10874716	0.89[ASN][1000 genomes]
rs10874721	0.89[ASN][1000 genomes]
rs11164605	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164654	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164770	0.88[EUR][1000 genomes]
rs11164773	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164778	0.89[ASN][1000 genomes]
rs11164780	0.85[ASN][1000 genomes]
rs11164799	0.89[ASN][1000 genomes]
rs11166568	0.82[AMR][1000 genomes]
rs11166575	0.82[AMR][1000 genomes]
rs1182640	0.89[ASN][1000 genomes]
rs12046739	0.89[ASN][1000 genomes]
rs12753280	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1337108	0.89[ASN][1000 genomes]
rs1337109	0.89[ASN][1000 genomes]
rs1408916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1487537	0.82[AMR][1000 genomes]
rs1537498	0.89[ASN][1000 genomes]
rs1556562	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1556563	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1570836	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570837	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17579779	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1886682	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886683	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906279	0.82[AMR][1000 genomes]
rs1932967	0.89[ASN][1000 genomes]
rs2008797	0.89[ASN][1000 genomes]
rs2025101	0.89[ASN][1000 genomes]
rs2025607	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2027059	0.89[ASN][1000 genomes]
rs2027060	0.89[ASN][1000 genomes]
rs2027061	0.81[EUR][1000 genomes]
rs2031494	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039451	0.89[ASN][1000 genomes]
rs2039452	0.89[ASN][1000 genomes]
rs2039453	0.89[ASN][1000 genomes]
rs2046621	0.82[AMR][1000 genomes]
rs2050597	0.89[ASN][1000 genomes]
rs2077529	0.89[ASN][1000 genomes]
rs2095265	0.89[ASN][1000 genomes]
rs2095266	0.89[ASN][1000 genomes]
rs2095267	0.89[ASN][1000 genomes]
rs2095268	0.89[ASN][1000 genomes]
rs2107520	0.89[ASN][1000 genomes]
rs2107521	0.89[ASN][1000 genomes]
rs2151577	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2158446	0.89[ASN][1000 genomes]
rs2180977	0.89[ASN][1000 genomes]
rs2184193	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2298912	0.89[ASN][1000 genomes]
rs2391159	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391160	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391164	0.89[ASN][1000 genomes]
rs2391194	0.89[ASN][1000 genomes]
rs2391196	0.89[ASN][1000 genomes]
rs2893217	0.89[ASN][1000 genomes]
rs3790446	0.89[ASN][1000 genomes]
rs3898498	0.89[ASN][1000 genomes]
rs3898499	0.89[ASN][1000 genomes]
rs3928821	0.89[ASN][1000 genomes]
rs4264007	0.89[ASN][1000 genomes]
rs4375281	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525050	0.89[ASN][1000 genomes]
rs4568842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4638137	0.89[ASN][1000 genomes]
rs4847181	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847232	0.89[ASN][1000 genomes]
rs4847234	0.85[ASN][1000 genomes]
rs4847280	0.89[ASN][1000 genomes]
rs4847285	0.89[ASN][1000 genomes]
rs4847304	0.89[ASN][1000 genomes]
rs4847305	0.89[ASN][1000 genomes]
rs4847309	0.89[ASN][1000 genomes]
rs4847310	0.84[ASN][1000 genomes]
rs4847327	0.89[ASN][1000 genomes]
rs4847377	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847400	0.89[ASN][1000 genomes]
rs4970696	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970698	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4970705	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970706	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970710	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970712	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59679370	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6422512	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422513	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422514	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6422515	0.89[ASN][1000 genomes]
rs6603963	0.82[AMR][1000 genomes]
rs6603967	0.82[AMR][1000 genomes]
rs6603975	0.93[EUR][1000 genomes]
rs6603979	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603980	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603981	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603982	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603984	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603985	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603987	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603988	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603990	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603993	0.89[ASN][1000 genomes]
rs6603994	0.89[ASN][1000 genomes]
rs6603999	0.89[ASN][1000 genomes]
rs6604010	0.89[ASN][1000 genomes]
rs6604012	0.85[ASN][1000 genomes]
rs6604015	0.89[ASN][1000 genomes]
rs6604018	0.84[ASN][1000 genomes]
rs6604091	0.82[AMR][1000 genomes]
rs6656432	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6660296	0.89[ASN][1000 genomes]
rs6661134	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661600	0.89[ASN][1000 genomes]
rs6665579	0.89[ASN][1000 genomes]
rs6668584	0.89[ASN][1000 genomes]
rs6668685	0.82[AMR][1000 genomes]
rs6669914	0.89[ASN][1000 genomes]
rs6671114	0.89[ASN][1000 genomes]
rs6675246	0.89[ASN][1000 genomes]
rs6676141	0.81[EUR][1000 genomes]
rs6676454	0.89[ASN][1000 genomes]
rs6676846	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678864	0.89[ASN][1000 genomes]
rs6686702	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690764	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691038	0.89[ASN][1000 genomes]
rs6692060	0.82[AMR][1000 genomes]
rs6692187	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696173	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701130	0.89[ASN][1000 genomes]
rs6704249	0.85[ASN][1000 genomes]
rs723909	0.89[ASN][1000 genomes]
rs7512301	0.82[AMR][1000 genomes]
rs7514716	0.89[ASN][1000 genomes]
rs7515577	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7515866	0.89[ASN][1000 genomes]
rs7516141	0.89[ASN][1000 genomes]
rs7518357	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7521345	0.89[ASN][1000 genomes]
rs7526582	0.89[ASN][1000 genomes]
rs7536295	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542747	0.82[AMR][1000 genomes]
rs7545318	0.89[ASN][1000 genomes]
rs7545445	0.82[AMR][1000 genomes]
rs7549844	0.89[ASN][1000 genomes]
rs7552212	0.80[EUR][1000 genomes]
rs7553367	0.89[ASN][1000 genomes]
rs7556243	0.89[ASN][1000 genomes]
rs757469	0.89[ASN][1000 genomes]
rs912795	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs914966	0.89[ASN][1000 genomes]
rs9439920	0.89[ASN][1000 genomes]
rs962221	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962222	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963043	0.89[ASN][1000 genomes]
rs963044	0.89[ASN][1000 genomes]
rs9633481	0.89[ASN][1000 genomes]
rs9651256	0.89[ASN][1000 genomes]
rs9661812	0.81[ASN][1000 genomes]
rs9699810	0.89[ASN][1000 genomes]
rs976208	0.89[ASN][1000 genomes]
rs976209	0.89[ASN][1000 genomes]
rs980940	0.89[ASN][1000 genomes]
rs989653	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92968200-93042800	Weak transcription	HSMM	muscle
3	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:92969800-92996800	Weak transcription	NH-A	brain
6	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92972600-93013400	Weak transcription	Ovary	ovary
9	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
13	chr1:92977400-92993200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
16	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:92977800-92986800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:92977800-92987400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:92977800-92995000	Weak transcription	Lung	lung
21	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:92978800-92991600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:92979600-92992600	Weak transcription	Left Ventricle	heart
24	chr1:92979600-92993000	Weak transcription	Placenta	Placenta
25	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:92981800-93033400	Weak transcription	NHEK	skin
28	chr1:92982200-92991800	Weak transcription	Liver	Liver
29	chr1:92982400-92992000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:92983000-92987800	Weak transcription	Spleen	Spleen
31	chr1:92983400-92998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:92983600-92991800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
34	chr1:92984400-92992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:92985200-92992000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:92986000-92986800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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