Variant report

Variant	rs4910875
Chromosome Location	chr11:4047855-4047856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:
2	chr11:4040603..4042840-chr11:4047485..4050461,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1013351	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10500590	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10767702	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10767713	0.83[EUR][1000 genomes]
rs10767715	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10767767	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10767811	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835311	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835312	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835331	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10835340	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835359	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10835399	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835402	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835403	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835406	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835407	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835454	0.91[EUR][1000 genomes]
rs10835474	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835508	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835521	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835540	0.88[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835545	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835554	0.85[ASN][1000 genomes]
rs10835556	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835557	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835561	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835596	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835597	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835601	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835604	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030276	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11030579	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030580	0.82[ASN][1000 genomes]
rs11030599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11030627	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11030631	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030639	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030781	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11493482	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12223176	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12281293	0.88[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12283447	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12286710	0.95[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs12290747	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12295138	0.83[EUR][1000 genomes]
rs1349583	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1442726	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1452047	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17081	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17279635	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2119987	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28419002	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898947	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4910590	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910596	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910597	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910598	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910866	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910868	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4910869	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910877	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910880	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66503725	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66596383	0.88[EUR][1000 genomes]
rs67065286	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67300156	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7102215	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7128762	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs714380	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718937	1.00[YRI][hapmap]
rs720571	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950153	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs963998	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs995498	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4910875	RRM1	cis	Thyroid	GTEx
rs4910875	STIM1	cis	Thyroid	GTEx
rs4910875	RRM1	cis	Artery Tibial	GTEx
rs4910875	STIM1	cis	lung	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
2	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
5	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
6	chr11:4038800-4050000	Weak transcription	K562	blood
7	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:4040200-4049600	Weak transcription	A549	lung
9	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:4043400-4051200	Weak transcription	Liver	Liver
11	chr11:4043600-4048000	Strong transcription	Thymus	Thymus
12	chr11:4043600-4049400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:4044000-4048200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:4044200-4050200	Strong transcription	Fetal Thymus	thymus
15	chr11:4044400-4048200	Strong transcription	Dnd41	blood
16	chr11:4044400-4049200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:4044600-4048000	Weak transcription	Small Intestine	intestine
18	chr11:4044800-4049000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:4045000-4048400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:4045000-4048400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:4045000-4048400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:4045000-4049000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:4045000-4049800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:4045000-4051200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:4045200-4048200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:4045200-4048400	Strong transcription	Primary B cells from cord blood	blood
27	chr11:4045200-4048400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:4045200-4049200	Enhancers	Fetal Heart	heart
29	chr11:4045400-4049600	Enhancers	Fetal Stomach	stomach
30	chr11:4045600-4048000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:4045600-4048000	Weak transcription	Ovary	ovary
32	chr11:4045600-4048400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:4045600-4048400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:4045600-4049200	Enhancers	Fetal Lung	lung
35	chr11:4045600-4049600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:4045800-4048400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:4045800-4053400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:4046000-4048000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:4046000-4048400	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:4046000-4049600	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:4046000-4061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:4046200-4048000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:4046200-4048000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:4046200-4048000	Enhancers	NHDF-Ad	bronchial
45	chr11:4046200-4049000	Enhancers	Brain Germinal Matrix	brain
46	chr11:4046400-4048000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:4046400-4048000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:4046400-4048000	Enhancers	HSMMtube	muscle
49	chr11:4046400-4051200	Weak transcription	HepG2	liver
50	chr11:4046600-4048600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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