Variant report

Variant	rs7124199
Chromosome Location	chr11:17849121-17849122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17783515..17784102-chr11:17848668..17849177,2	MCF-7	breast:
2	chr11:17842186..17845184-chr11:17848108..17850179,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005008	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10466421	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11024415	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11821847	0.99[ASN][1000 genomes]
rs1548528	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2079227	0.81[EUR][1000 genomes]
rs2107427	0.94[ASN][1000 genomes]
rs2158396	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237943	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237944	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237946	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237948	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4757591	0.99[ASN][1000 genomes]
rs4757593	0.81[ASN][1000 genomes]
rs6486398	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486399	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106840	0.99[ASN][1000 genomes]
rs7109837	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7115183	0.99[ASN][1000 genomes]
rs718439	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs765989	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7929668	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7932686	0.94[ASN][1000 genomes]
rs7935967	0.94[ASN][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
3	chr11:17831200-17849400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:17832000-17849600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:17833800-17867400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:17835000-17849600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:17835000-17869400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:17835200-17884200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:17838400-17971600	Weak transcription	Gastric	stomach
10	chr11:17838600-17851000	Weak transcription	Fetal Kidney	kidney
11	chr11:17838800-17860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:17844200-17849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17844200-17850200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17844400-17849400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:17844400-17849400	Weak transcription	Ovary	ovary
16	chr11:17844400-17849600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:17844400-17849600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:17844400-17849600	Weak transcription	Lung	lung
19	chr11:17844400-17849600	Weak transcription	HSMMtube	muscle
20	chr11:17844400-17852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:17844600-17849600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:17844600-17849600	Weak transcription	NHDF-Ad	bronchial
23	chr11:17844800-17862000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:17845000-17849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:17845200-17849600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:17845200-17849800	Weak transcription	Psoas Muscle	Psoas
27	chr11:17845400-17849200	Weak transcription	Right Ventricle	heart
28	chr11:17847600-17852000	Weak transcription	Spleen	Spleen
29	chr11:17848600-17853000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:17848800-17850600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:17849000-17851800	Enhancers	Fetal Stomach	stomach

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