Variant report

Variant	rs4910600
Chromosome Location	chr11:4166514-4166515
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	chr11:4164447..4167115-chr11:4182459..4184235,3	K562	blood:
2	chr11:4164447..4167814-chr11:4181176..4184235,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1042927	0.81[ASN][1000 genomes]
rs10500594	0.81[ASN][1000 genomes]
rs10742244	0.81[ASN][1000 genomes]
rs10742245	0.81[ASN][1000 genomes]
rs10742246	0.81[ASN][1000 genomes]
rs10742247	0.81[ASN][1000 genomes]
rs10767849	0.81[ASN][1000 genomes]
rs10767850	0.81[ASN][1000 genomes]
rs10767851	0.81[ASN][1000 genomes]
rs10767853	0.81[ASN][1000 genomes]
rs10767854	0.81[ASN][1000 genomes]
rs10767855	0.81[ASN][1000 genomes]
rs10767857	0.81[ASN][1000 genomes]
rs10767858	0.81[ASN][1000 genomes]
rs10835669	0.81[ASN][1000 genomes]
rs10835679	0.81[ASN][1000 genomes]
rs11031097	0.81[ASN][1000 genomes]
rs11031100	0.81[ASN][1000 genomes]
rs11031123	0.81[ASN][1000 genomes]
rs2412342	0.81[ASN][1000 genomes]
rs2412343	0.81[ASN][1000 genomes]
rs2412370	0.81[ASN][1000 genomes]
rs2898949	0.81[ASN][1000 genomes]
rs35487937	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4243967	0.81[ASN][1000 genomes]
rs4492817	0.81[ASN][1000 genomes]
rs4570574	0.81[ASN][1000 genomes]
rs4910601	0.81[ASN][1000 genomes]
rs4910893	0.81[ASN][1000 genomes]
rs4910894	0.81[ASN][1000 genomes]
rs4910896	0.81[ASN][1000 genomes]
rs4910897	0.81[ASN][1000 genomes]
rs4910898	0.81[ASN][1000 genomes]
rs4910899	0.81[ASN][1000 genomes]
rs4910900	0.81[ASN][1000 genomes]
rs4910902	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4910903	0.81[ASN][1000 genomes]
rs4910905	0.81[ASN][1000 genomes]
rs4910907	0.81[ASN][1000 genomes]
rs4910908	0.81[ASN][1000 genomes]
rs4910909	0.81[ASN][1000 genomes]
rs4910910	0.81[ASN][1000 genomes]
rs4910911	0.81[ASN][1000 genomes]
rs4910912	0.81[ASN][1000 genomes]
rs6578446	0.81[ASN][1000 genomes]
rs7115496	0.81[ASN][1000 genomes]
rs7126014	0.81[ASN][1000 genomes]
rs7932271	0.81[ASN][1000 genomes]
rs7938727	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7945413	0.81[ASN][1000 genomes]
rs7945532	0.81[ASN][1000 genomes]
rs7946885	0.80[ASN][1000 genomes]
rs7946987	0.81[ASN][1000 genomes]
rs7950384	0.81[ASN][1000 genomes]
rs7951836	0.81[ASN][1000 genomes]
rs992980	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4910600	RRM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
3	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:4160000-4169200	Weak transcription	NHLF	lung
5	chr11:4160000-4172200	Weak transcription	NHEK	skin
6	chr11:4161200-4166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:4161400-4169400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:4161600-4179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:4161800-4166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:4162400-4167400	Weak transcription	Esophagus	oesophagus
11	chr11:4162400-4167400	Weak transcription	Fetal Stomach	stomach
12	chr11:4162400-4167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:4162400-4168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:4162400-4168200	Weak transcription	Fetal Kidney	kidney
15	chr11:4162400-4169400	Weak transcription	Brain Germinal Matrix	brain
16	chr11:4162400-4172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:4162600-4167200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:4162600-4167200	Weak transcription	HMEC	breast
19	chr11:4162600-4167800	Weak transcription	Spleen	Spleen
20	chr11:4162800-4166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:4163000-4173000	Weak transcription	Psoas Muscle	Psoas
22	chr11:4163200-4167000	Weak transcription	Adipose Nuclei	Adipose
23	chr11:4163200-4167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:4163200-4168600	Weak transcription	Fetal Brain Male	brain
25	chr11:4163200-4170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:4163400-4166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:4163400-4167200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:4163400-4169200	Weak transcription	Aorta	Aorta
29	chr11:4163400-4169200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:4163400-4173000	Weak transcription	HSMM	muscle
31	chr11:4163600-4168600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:4163600-4168600	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:4163800-4167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:4163800-4167400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:4163800-4167600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:4163800-4169200	Weak transcription	Left Ventricle	heart
37	chr11:4164800-4166800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:4164800-4169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:4165000-4166600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:4165000-4166600	Weak transcription	Fetal Thymus	thymus
41	chr11:4165000-4166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:4165000-4168800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:4165000-4168800	Weak transcription	GM12878-XiMat	blood
44	chr11:4165000-4169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:4165200-4166800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:4165200-4168000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:4165200-4172200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:4165400-4169200	Weak transcription	Dnd41	blood
49	chr11:4165600-4167000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:4165600-4167000	Enhancers	K562	blood

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