Variant report

Variant	rs4910590
Chromosome Location	chr11:4018619-4018620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4018500-4018650	GM12869	blood:	n/a	n/a
2	JUN	chr11:4016528-4019019	K562	blood:	n/a	n/a
3	CTCF	chr11:4018480-4018630	GM12873	blood:	n/a	n/a
4	CTCF	chr11:4018480-4018630	HMEC	breast:	n/a	n/a
5	CTCF	chr11:4018480-4018630	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:4018540-4018690	GM12875	blood:	n/a	n/a
7	CTCF	chr11:4018480-4018630	RPTEC	kidney:	n/a	n/a
8	CTCF	chr11:4018480-4018630	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr11:4018520-4018670	K562	blood:	n/a	n/a
10	CTCF	chr11:4018520-4018670	GM12874	blood:	n/a	n/a
11	CTCF	chr11:4018468-4018632	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:4018480-4018630	NHEK	skin:	n/a	n/a
13	CTCF	chr11:4018430-4018747	K562	blood:	n/a	n/a
14	ARID3A	chr11:4018503-4018689	K562	blood:	n/a	n/a
15	CTCF	chr11:4018540-4018690	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:4018480-4018630	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:4018480-4018630	AG04450	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3929305..3931209-chr11:4016785..4019728,2	K562	blood:
2	chr11:3861620..3863293-chr11:4016277..4018859,2	K562	blood:
3	chr11:3861767..3864262-chr11:4018054..4019726,2	MCF-7	breast:

No data

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1013351	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10500590	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767702	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10767713	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767715	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767767	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10767811	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10835311	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835312	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835331	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835340	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835359	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10835399	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835402	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835403	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835406	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835407	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835454	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835474	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835521	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835540	0.86[EUR][1000 genomes]
rs10835545	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835556	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835557	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835561	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835596	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835597	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835601	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835604	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030276	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11030579	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030599	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030627	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11030631	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030639	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030781	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11493482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12223176	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12281293	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12283447	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12286710	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12290747	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12295138	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1349583	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1442726	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1452047	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17081	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17279635	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119987	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28419002	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2898947	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910596	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910597	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910598	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910866	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910868	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910869	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910875	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910877	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910880	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66503725	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66596383	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67065286	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67300156	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7102215	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7128762	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs714380	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71466139	0.81[ASN][1000 genomes]
rs720571	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7935824	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7950153	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs963998	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs995498	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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	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	nsv971974	chr11:4009259-4018790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	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
5	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
rs4910590	RRM1	cis	Artery Tibial	GTEx
rs4910590	RRM1	cis	Thyroid	GTEx
rs4910590	STIM1	cis	lung	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
4	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:4015600-4020400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:4016000-4020400	Weak transcription	Thymus	Thymus
7	chr11:4016600-4018800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:4016600-4018800	Enhancers	Psoas Muscle	Psoas
9	chr11:4016600-4019000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:4016600-4019000	Enhancers	K562	blood
11	chr11:4016600-4019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:4016600-4019600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:4017200-4018800	Enhancers	Fetal Stomach	stomach
14	chr11:4017200-4019400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:4017200-4019400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:4017600-4020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:4017600-4020400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:4017600-4020400	Weak transcription	Fetal Thymus	thymus
20	chr11:4017600-4020400	Weak transcription	Dnd41	blood
21	chr11:4017600-4020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
23	chr11:4017800-4020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:4017800-4020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:4017800-4020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:4018000-4020400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:4018000-4023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:4018200-4020200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:4018200-4027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:4018200-4027200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:4018400-4027000	Weak transcription	Primary T cells from cord blood	blood

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