Variant report

Variant	rs4910868
Chromosome Location	chr11:3980224-3980225
allele	A/C
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	RAD21	chr11:3980173-3980687	HCT-116	colon:	n/a	n/a
2	CTCF	chr11:3980180-3980330	SAEC	small airway:	n/a	n/a
3	RAD21	chr11:3980215-3980692	A549	lung:	n/a	n/a
4	CTCF	chr11:3980089-3981320	A549	lung:	n/a	chr11:3980466-3980475 chr11:3980462-3980475
5	ZNF263	chr11:3980192-3980473	HEK293-T-REx	kidney:	n/a	chr11:3980231-3980240
6	RAD21	chr11:3980146-3980626	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF384	chr11:3980030-3980498	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3979407..3982038-chr11:3982601..3985547,3	K562	blood:
2	chr11:3972776..3975865-chr11:3976108..3980315,4	K562	blood:
3	chr11:3870179..3871112-chr11:3980205..3980923,2	K562	blood:
4	chr11:3875728..3877004-chr11:3979944..3980979,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255232	TF binding region
ENSG00000229368	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1013351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742200	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs10767702	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767713	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767767	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10767811	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10835239	0.86[CEU][hapmap]
rs10835311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835312	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835337	0.86[EUR][1000 genomes]
rs10835340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835359	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835390	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs10835399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835454	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10835474	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835508	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10835521	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10835540	0.83[CEU][hapmap];0.93[CHB][hapmap]
rs10835556	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835557	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835561	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10835596	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10835597	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10835601	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10835604	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11030276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030404	0.88[EUR][1000 genomes]
rs11030579	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11030599	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030627	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11030631	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11030639	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11030660	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11030781	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11493482	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1155146	0.80[CEU][hapmap]
rs11828337	0.86[EUR][1000 genomes]
rs12223176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12281293	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12286710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12290747	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12295138	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1349583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442726	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1452047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1452048	0.87[EUR][1000 genomes]
rs17081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839910	0.87[EUR][1000 genomes]
rs2119987	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2412338	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs2898947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910590	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910596	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910597	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910598	0.84[EUR][1000 genomes]
rs4910866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910869	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910875	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4910877	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4910880	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6578424	0.88[EUR][1000 genomes]
rs66503725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66596383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67065286	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67300156	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7102215	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113845	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs7128762	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7131437	0.80[CEU][hapmap]
rs714380	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71466139	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs720571	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924984	0.88[EUR][1000 genomes]
rs7925954	0.84[EUR][1000 genomes]
rs7935824	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7950153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963998	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs995498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4910868	RRM1	cis	Artery Tibial	GTEx
rs4910868	RRM1	cis	Thyroid	GTEx
rs4910868	STIM1	cis	lung	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3969000-3980400	Weak transcription	NHLF	lung
3	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:3973200-3981000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:3973200-3982400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
12	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:3974200-3982200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:3974400-3980400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:3974400-3983400	Weak transcription	Small Intestine	intestine
16	chr11:3974800-3988200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:3974800-3988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
19	chr11:3975600-3988600	Weak transcription	Dnd41	blood
20	chr11:3975600-3988800	Weak transcription	Aorta	Aorta
21	chr11:3975800-3984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:3975800-3988800	Weak transcription	Esophagus	oesophagus
23	chr11:3976000-3980400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:3977200-3982200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:3977400-3983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:3977400-3985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:3977400-3988600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:3977600-3980400	Weak transcription	Fetal Thymus	thymus
29	chr11:3977600-3980600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:3977800-3980600	Weak transcription	Primary T cells from cord blood	blood
31	chr11:3977800-3981400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:3977800-3982200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:3978600-3980400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:3979000-3981200	Enhancers	Placenta	Placenta
35	chr11:3979400-3980400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:3979400-3980400	Enhancers	HepG2	liver
37	chr11:3979400-3981000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:3979400-3981800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:3979400-3982000	Enhancers	NHEK	skin
40	chr11:3979400-3982600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:3979400-3982600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:3979400-3983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:3979600-3980400	Enhancers	A549	lung
44	chr11:3979600-3981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:3979600-3981200	Enhancers	Thymus	Thymus
46	chr11:3979600-3981600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:3979600-3981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:3979600-3981800	Enhancers	Osteobl	bone
49	chr11:3979600-3982400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:3979600-3982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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