Variant report

Variant	rs10835611
Chromosome Location	chr11:4117730-4117731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3857735..3860667-chr11:4115366..4118226,4	K562	blood:
2	chr11:3861866..3863441-chr11:4116962..4119741,2	MCF-7	breast:
3	chr11:4116202..4117899-chr11:4118829..4121335,2	MCF-7	breast:
4	chr11:4116176..4118411-chr11:4121664..4124693,3	MCF-7	breast:
5	chr11:4116211..4118977-chr11:4131945..4133652,2	K562	blood:
6	chr11:4116269..4118457-chr11:4145281..4147453,2	MCF-7	breast:
7	chr11:3839155..3841334-chr11:4117148..4119265,2	K562	blood:
8	chr11:4106632..4109495-chr11:4117299..4119032,2	K562	blood:

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10742242	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10767811	0.86[CHB][hapmap]
rs10767845	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835508	0.81[CHB][hapmap]
rs10835521	0.81[CHB][hapmap]
rs10835540	0.81[CHB][hapmap]
rs10835556	0.81[CHB][hapmap]
rs10835561	0.81[CHB][hapmap]
rs10835596	0.86[CHB][hapmap]
rs10835604	0.81[CHB][hapmap]
rs10835684	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030639	0.86[CHB][hapmap]
rs11030781	0.86[CHB][hapmap]
rs11030918	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs11031110	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12290828	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12806698	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1442726	0.81[CHB][hapmap]
rs2056853	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2165728	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268168	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2284450	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34832073	0.85[EUR][1000 genomes]
rs35359151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3817657	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910599	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910877	0.81[CHB][hapmap]
rs4910886	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910887	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910888	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910889	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910904	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7111104	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7130580	0.91[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7932702	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940013	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949663	0.83[ASN][1000 genomes]
rs963998	0.86[CHB][hapmap]
rs9666229	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9666857	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10835611	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4115400-4118200	Active TSS	GM12878-XiMat	blood
2	chr11:4116400-4117800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr11:4116600-4117800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:4116600-4117800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:4116600-4117800	Flanking Active TSS	HUVEC	blood vessel
6	chr11:4116600-4117800	Flanking Active TSS	NH-A	brain
7	chr11:4116600-4118000	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr11:4116600-4118000	Flanking Active TSS	Fetal Brain Female	brain
9	chr11:4116800-4117800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:4116800-4117800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:4116800-4117800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:4116800-4117800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:4116800-4120000	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr11:4117000-4117800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:4117000-4117800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:4117000-4117800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:4117000-4117800	Flanking Active TSS	HMEC	breast
18	chr11:4117000-4117800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr11:4117000-4117800	Flanking Active TSS	NHEK	skin
20	chr11:4117000-4118200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:4117000-4124600	Weak transcription	Aorta	Aorta
22	chr11:4117000-4124600	Weak transcription	Left Ventricle	heart
23	chr11:4117000-4137200	Weak transcription	Esophagus	oesophagus
24	chr11:4117000-4141000	Weak transcription	Ovary	ovary
25	chr11:4117200-4117800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:4117200-4117800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:4117200-4117800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:4117200-4117800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:4117200-4117800	Enhancers	Brain Angular Gyrus	brain
30	chr11:4117200-4117800	Enhancers	Colon Smooth Muscle	Colon
31	chr11:4117200-4117800	Active TSS	Fetal Kidney	kidney
32	chr11:4117200-4117800	Enhancers	Pancreas	Pancrea
33	chr11:4117200-4118000	Enhancers	Primary T cells from cord blood	blood
34	chr11:4117200-4118400	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:4117200-4119000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:4117200-4119200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:4117200-4119200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:4117200-4120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:4117200-4126800	Weak transcription	Psoas Muscle	Psoas
40	chr11:4117200-4127400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
42	chr11:4117400-4117800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:4117400-4117800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:4117400-4117800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:4117400-4117800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:4117400-4118000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:4117400-4118200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:4117400-4118200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:4117400-4118200	Genic enhancers	Fetal Stomach	stomach
50	chr11:4117400-4118200	Active TSS	HSMM	muscle

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