Variant report

Variant	rs2735691
Chromosome Location	chr11:4117709-4117710
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
ENSG00000167325	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1015998	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10835613	0.84[CHD][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10835650	0.83[AMR][1000 genomes]
rs11030842	0.90[CHB][hapmap];0.81[CHD][hapmap];0.81[MKK][hapmap]
rs11030976	0.86[CHD][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs11030980	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11031043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11031062	0.82[EUR][1000 genomes]
rs11031070	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372804	0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[MKK][hapmap]
rs1662161	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1662172	0.84[MEX][hapmap]
rs1662173	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs183484	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980412	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284452	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs232054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2920144	0.81[CHD][hapmap]
rs2923944	0.83[MKK][hapmap]
rs2923945	0.81[CHB][hapmap];0.95[MKK][hapmap]
rs2959056	0.86[CHB][hapmap];0.91[MKK][hapmap]
rs2959070	0.90[CHB][hapmap]
rs2959075	0.90[CHB][hapmap]
rs34356743	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910913	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4910914	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs54816	0.83[AMR][1000 genomes]
rs725518	0.84[CHD][hapmap];0.92[MEX][hapmap]
rs725519	0.84[CHD][hapmap];0.92[MEX][hapmap]
rs7945639	0.81[MKK][hapmap]
rs9937	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2735691	KRTAP5-4	cis	cerebellum	SCAN
rs2735691	OR52I2	cis	parietal	SCAN
rs2735691	CHRNA10	cis	Artery Tibial	GTEx
rs2735691	RRM1	cis	multi-tissue	Pritchard
rs2735691	TRIM21	cis	cerebellum	SCAN
rs2735691	OR51E2	cis	cerebellum	SCAN
rs2735691	OR51A4	cis	parietal	SCAN
rs2735691	RRM1	cis	cerebellum	SCAN
rs2735691	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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