Variant report

Variant	rs11030631
Chromosome Location	chr11:4037996-4037997
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:4037916-4038105	K562	blood:	n/a	n/a
2	KAP1	chr11:4037789-4038226	U2OS	brain:	n/a	n/a
3	YY1	chr11:4037852-4038137	K562	blood:	n/a	n/a
4	KAP1	chr11:4037770-4038314	HEK293	kidney:	n/a	n/a
5	CBX3	chr11:4037778-4038109	K562	blood:	n/a	n/a
6	MAZ	chr11:4037853-4038066	K562	blood:	n/a	n/a
7	BHLHE40	chr11:4037931-4038046	K562	blood:	n/a	n/a
8	FOXA2	chr11:4037815-4038195	A549	lung:	n/a	n/a
9	FOXA2	chr11:4037849-4038041	HepG2	liver:	n/a	n/a
10	YY1	chr11:4037837-4038113	K562	blood:	n/a	n/a
11	RCOR1	chr11:4037880-4038142	K562	blood:	n/a	n/a
12	MYC	chr11:4037955-4038082	K562	blood:	n/a	n/a
13	FOXA2	chr11:4037745-4038150	A549	lung:	n/a	n/a
14	CHD2	chr11:4037995-4038113	K562	blood:	n/a	n/a
15	FOXA1	chr11:4037788-4038073	HepG2	liver:	n/a	n/a
16	GATA2	chr11:4037706-4038057	K562	blood:	n/a	n/a
17	JUND	chr11:4037858-4038092	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPS29P20	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1013351	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10500590	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10767702	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10767713	0.84[EUR][1000 genomes]
rs10767715	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10767767	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10767811	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835311	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835312	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10835331	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835340	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835359	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10835399	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10835402	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10835403	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10835406	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10835407	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10835454	0.90[EUR][1000 genomes]
rs10835474	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10835508	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835521	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835540	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835545	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835554	0.84[ASN][1000 genomes]
rs10835556	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835557	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835561	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835596	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835597	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835601	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835604	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11030276	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11030579	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030580	0.82[ASN][1000 genomes]
rs11030599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030639	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030660	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030781	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11493482	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12223176	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12281293	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12283447	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12286710	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12290747	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12295138	0.82[EUR][1000 genomes]
rs1349583	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1442726	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452047	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17081	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17279635	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2119987	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28419002	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2898947	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910590	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910596	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910597	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910598	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910866	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910868	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910869	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4910875	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910877	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910880	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66503725	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66596383	0.87[EUR][1000 genomes]
rs67065286	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67300156	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7102215	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7128762	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs714380	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720571	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73431657	0.83[AFR][1000 genomes]
rs7935824	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950153	0.85[EUR][1000 genomes]
rs963998	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs995498	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11030631	RRM1	cis	Thyroid	GTEx
rs11030631	STIM1	cis	lung	GTEx
rs11030631	RRM1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
5	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
6	chr11:4021000-4044400	Weak transcription	Dnd41	blood
7	chr11:4028800-4043400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:4029000-4041400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:4036600-4040800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:4037000-4039200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:4037200-4045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:4037400-4040000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:4037600-4038000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:4037600-4038200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:4037600-4038200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:4037600-4038200	Enhancers	Gastric	stomach
18	chr11:4037600-4038400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:4037600-4038400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:4037600-4038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:4037600-4038400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:4037600-4038400	Enhancers	Lung	lung
23	chr11:4037600-4038400	Enhancers	Pancreas	Pancrea
24	chr11:4037600-4038400	Enhancers	Psoas Muscle	Psoas
25	chr11:4037600-4038400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:4037600-4038800	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:4037600-4039000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:4037600-4039600	Enhancers	Placenta	Placenta
29	chr11:4037800-4038000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:4037800-4038000	Enhancers	Spleen	Spleen
31	chr11:4037800-4038400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:4037800-4038600	Enhancers	Right Ventricle	heart
33	chr11:4037800-4038800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:4037800-4038800	Enhancers	K562	blood
35	chr11:4037800-4039200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:4037800-4040200	Enhancers	Primary T helper cells PMA-I stimulated	--

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