Variant report

Variant	rs4910596
Chromosome Location	chr11:4084604-4084605
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	chr11:4083954..4086302-chr11:4087607..4091172,3	K562	blood:
2	chr11:4082609..4084818-chr11:4091785..4094735,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1013351	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10500590	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10767702	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10767715	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10767767	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767811	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835311	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10835312	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10835331	0.80[EUR][1000 genomes]
rs10835340	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10835359	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10835399	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835402	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835403	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835406	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835407	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835454	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835474	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835521	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835540	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835545	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835554	0.85[ASN][1000 genomes]
rs10835556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835557	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835561	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835596	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835597	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835601	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835604	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030276	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11030579	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030580	0.85[ASN][1000 genomes]
rs11030599	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030627	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030631	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11030639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030660	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030781	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11493482	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12223176	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12281293	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12283447	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12286710	0.83[EUR][1000 genomes]
rs12290747	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1349583	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1442726	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452047	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17081	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17279635	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2119987	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28419002	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2898947	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910590	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910597	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910598	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910866	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4910868	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910869	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910875	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910877	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910880	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66503725	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66596383	0.83[EUR][1000 genomes]
rs67065286	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67300156	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7102215	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7128762	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs714380	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720571	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935824	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963998	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs995498	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4910596	RRM1	cis	Artery Tibial	GTEx
rs4910596	RRM1	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
4	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4070800-4108600	Weak transcription	HSMM	muscle
7	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:4076000-4087000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:4076600-4085200	Strong transcription	Dnd41	blood
11	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:4079000-4093000	Weak transcription	Brain Germinal Matrix	brain
13	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
14	chr11:4079200-4085200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:4079400-4085600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:4079400-4085800	Weak transcription	Fetal Heart	heart
17	chr11:4079600-4087200	Weak transcription	NH-A	brain
18	chr11:4079800-4085800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:4079800-4093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:4080000-4086200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:4080200-4088000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:4080400-4085400	Strong transcription	Primary B cells from cord blood	blood
23	chr11:4080400-4087800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:4081000-4085800	Weak transcription	Right Ventricle	heart
25	chr11:4081000-4089800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:4081000-4090000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:4081000-4090000	Weak transcription	Esophagus	oesophagus
28	chr11:4081000-4101800	Weak transcription	Lung	lung
29	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
30	chr11:4081200-4093000	Weak transcription	Fetal Kidney	kidney
31	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:4081600-4085600	Weak transcription	Gastric	stomach
34	chr11:4081600-4086000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:4081600-4086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:4081600-4092800	Weak transcription	Fetal Stomach	stomach
37	chr11:4081800-4084800	Weak transcription	NHLF	lung
38	chr11:4081800-4085400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:4081800-4085800	Weak transcription	Left Ventricle	heart
40	chr11:4081800-4095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:4081800-4095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:4082000-4085800	Weak transcription	Aorta	Aorta
43	chr11:4082000-4085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:4082000-4087000	Weak transcription	Brain Angular Gyrus	brain
45	chr11:4082000-4093400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:4082400-4085800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:4082400-4087600	Weak transcription	Brain Substantia Nigra	brain
48	chr11:4082400-4089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:4082400-4089800	Weak transcription	Fetal Lung	lung
50	chr11:4082400-4089800	Weak transcription	HepG2	liver

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