Variant report

Variant	rs9497419
Chromosome Location	chr6:146142609-146142610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146141313..146146704-chr6:146148816..146153932,6	K562	blood:
2	chr6:146142328..146146619-chr6:146150916..146155602,4	K562	blood:
3	chr6:146055789..146058458-chr6:146141584..146143100,2	MCF-7	breast:
4	chr6:146055040..146057453-chr6:146140847..146144073,3	MCF-7	breast:
5	chr6:146139809..146142645-chr6:146144083..146147195,5	K562	blood:

Variant related genes	Relation type
ENSG00000270828	Chromatin interaction
ENSG00000270638	Chromatin interaction
ENSG00000112425	Chromatin interaction

Extended variants
information (count: 198 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:197)

rs_ID	r²[population]
rs1004752	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1011596	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1011597	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10214925	0.93[EUR][1000 genomes]
rs10447449	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055212	0.95[EUR][1000 genomes]
rs1062067	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1062068	0.81[EUR][1000 genomes]
rs1070517	0.84[EUR][1000 genomes]
rs1070519	0.83[EUR][1000 genomes]
rs10872580	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11155438	0.82[EUR][1000 genomes]
rs11155442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133832	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11760	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11965018	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12190966	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199362	0.99[EUR][1000 genomes]
rs13214277	0.96[EUR][1000 genomes]
rs1337839	0.88[EUR][1000 genomes]
rs1337840	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1337841	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13437042	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1415744	0.88[EUR][1000 genomes]
rs1415746	0.99[EUR][1000 genomes]
rs1415747	0.99[EUR][1000 genomes]
rs1569540	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1577916	0.95[EUR][1000 genomes]
rs1832362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1883365	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1890171	0.97[EUR][1000 genomes]
rs1986729	0.93[EUR][1000 genomes]
rs2050027	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2064185	0.94[EUR][1000 genomes]
rs2072911	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2092262	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2092263	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142981	0.98[EUR][1000 genomes]
rs2142983	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235482	0.82[EUR][1000 genomes]
rs2243665	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2246334	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2247206	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247211	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247317	0.86[ASN][1000 genomes]
rs2249147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2249386	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2250387	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253194	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253307	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253648	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253654	0.90[EUR][1000 genomes]
rs2253764	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253768	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253880	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2253886	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253887	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254257	0.81[EUR][1000 genomes]
rs2254283	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254288	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256998	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265467	0.84[ASN][1000 genomes]
rs2265469	0.85[ASN][1000 genomes]
rs2265471	0.86[ASN][1000 genomes]
rs2265472	0.85[ASN][1000 genomes]
rs2265474	0.96[EUR][1000 genomes]
rs2265477	0.86[ASN][1000 genomes]
rs2265915	0.93[EUR][1000 genomes]
rs2265916	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2265917	0.86[ASN][1000 genomes]
rs2265918	0.86[ASN][1000 genomes]
rs2265919	0.86[ASN][1000 genomes]
rs2328704	0.87[ASN][1000 genomes]
rs2328707	0.94[EUR][1000 genomes]
rs2328709	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2485632	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814879	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814880	0.86[ASN][1000 genomes]
rs3811102	0.99[EUR][1000 genomes]
rs4316025	0.83[ASN][1000 genomes]
rs4435956	0.84[ASN][1000 genomes]
rs4455694	0.91[EUR][1000 genomes]
rs4566902	0.84[ASN][1000 genomes]
rs4895683	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4895684	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4896837	0.91[EUR][1000 genomes]
rs4896838	0.91[EUR][1000 genomes]
rs4896839	0.91[EUR][1000 genomes]
rs4896841	0.95[EUR][1000 genomes]
rs4896842	0.94[EUR][1000 genomes]
rs4896843	0.94[EUR][1000 genomes]
rs4896844	0.99[EUR][1000 genomes]
rs55810423	0.82[EUR][1000 genomes]
rs57700188	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62433835	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62435810	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6570708	0.82[EUR][1000 genomes]
rs6570713	0.99[EUR][1000 genomes]
rs6570715	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6570716	0.90[EUR][1000 genomes]
rs6570717	0.97[EUR][1000 genomes]
rs6570719	0.95[EUR][1000 genomes]
rs6570723	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6570724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901888	0.93[EUR][1000 genomes]
rs6902913	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6906258	0.99[EUR][1000 genomes]
rs6906402	0.99[EUR][1000 genomes]
rs6915718	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6917135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6917482	0.84[ASN][1000 genomes]
rs6921073	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923678	0.95[EUR][1000 genomes]
rs6926076	0.84[ASN][1000 genomes]
rs6928007	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6930154	0.88[EUR][1000 genomes]
rs6931553	0.98[EUR][1000 genomes]
rs6932863	0.84[EUR][1000 genomes]
rs6933161	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6937661	0.99[EUR][1000 genomes]
rs6941429	0.82[EUR][1000 genomes]
rs697053	0.82[EUR][1000 genomes]
rs697054	0.90[EUR][1000 genomes]
rs697055	0.90[EUR][1000 genomes]
rs697056	0.90[EUR][1000 genomes]
rs702304	0.83[EUR][1000 genomes]
rs702306	0.83[EUR][1000 genomes]
rs702307	0.84[EUR][1000 genomes]
rs702309	0.82[EUR][1000 genomes]
rs702314	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs702317	0.91[EUR][1000 genomes]
rs702318	0.91[EUR][1000 genomes]
rs702319	0.91[EUR][1000 genomes]
rs702320	0.90[EUR][1000 genomes]
rs702321	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs702323	0.88[EUR][1000 genomes]
rs702324	0.91[EUR][1000 genomes]
rs735535	0.89[EUR][1000 genomes]
rs735536	0.89[EUR][1000 genomes]
rs7739735	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7740785	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742333	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744014	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7745696	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7752286	0.99[EUR][1000 genomes]
rs7753770	0.95[EUR][1000 genomes]
rs7753833	0.88[EUR][1000 genomes]
rs7762562	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7772717	0.82[EUR][1000 genomes]
rs857881	0.82[EUR][1000 genomes]
rs864148	0.81[EUR][1000 genomes]
rs9373471	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373473	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373475	0.99[EUR][1000 genomes]
rs9373476	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376957	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9376961	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9376968	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9386128	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9386131	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9386132	0.99[EUR][1000 genomes]
rs9386133	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386134	0.98[EUR][1000 genomes]
rs9390344	0.87[ASN][1000 genomes]
rs9390348	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390349	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390354	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390355	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9390356	0.99[EUR][1000 genomes]
rs9390357	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390358	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399561	0.82[EUR][1000 genomes]
rs9399564	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9399565	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399567	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9399569	0.83[ASN][1000 genomes]
rs9403739	0.88[EUR][1000 genomes]
rs9403741	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403742	0.82[EUR][1000 genomes]
rs9403746	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9403747	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403749	0.96[EUR][1000 genomes]
rs9403750	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403755	0.84[ASN][1000 genomes]
rs9485018	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9485019	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9485021	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9485024	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497395	0.88[EUR][1000 genomes]
rs9497396	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9497398	0.85[EUR][1000 genomes]
rs9497401	0.95[EUR][1000 genomes]
rs9497406	0.94[EUR][1000 genomes]
rs9497424	0.84[ASN][1000 genomes]
rs9497425	0.84[ASN][1000 genomes]
rs9497427	0.82[ASN][1000 genomes]
rs991507	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9497419	RP11-545I5.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146136800-146165200	Weak transcription	Lung	lung
2	chr6:146137000-146147200	Weak transcription	Esophagus	oesophagus
3	chr6:146137000-146150200	Weak transcription	Aorta	Aorta
4	chr6:146137000-146150200	Weak transcription	Ovary	ovary
5	chr6:146137200-146146800	Weak transcription	HSMM	muscle
6	chr6:146137400-146142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:146137400-146144200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:146137400-146144200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:146137400-146146400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:146137400-146167200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:146137600-146156400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:146137800-146142800	Weak transcription	Brain Substantia Nigra	brain
13	chr6:146137800-146144200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:146137800-146144200	Weak transcription	Thymus	Thymus
15	chr6:146137800-146150200	Weak transcription	Left Ventricle	heart
16	chr6:146137800-146152800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:146137800-146159600	Weak transcription	Psoas Muscle	Psoas
18	chr6:146137800-146163000	Weak transcription	Fetal Stomach	stomach
19	chr6:146138000-146143400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:146138000-146144600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:146138000-146145200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:146138000-146145200	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:146138000-146150000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:146138000-146157000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:146140000-146157200	Weak transcription	HSMMtube	muscle
26	chr6:146140200-146144600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:146140200-146144600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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