Variant report

Variant	rs2299630
Chromosome Location	chr11:17827247-17827248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17825311..17828756-chr11:17836792..17840310,3	MCF-7	breast:
2	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:
3	chr11:17813467..17816316-chr11:17826867..17829141,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005008	0.82[ASN][1000 genomes]
rs11821847	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2107427	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2158395	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283248	0.98[ASN][1000 genomes]
rs2283249	0.98[ASN][1000 genomes]
rs2299632	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757590	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757591	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7106840	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7932686	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7935967	0.85[AMR][1000 genomes];0.86[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	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
2	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
4	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
7	chr11:17808800-17828600	Weak transcription	Fetal Brain Female	brain
8	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
9	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:17810400-17829400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:17811000-17830800	Weak transcription	Primary T cells from cord blood	blood
12	chr11:17815600-17841400	Weak transcription	HepG2	liver
13	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:17820800-17832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:17821200-17828200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:17821200-17831800	Weak transcription	Esophagus	oesophagus
17	chr11:17824200-17828200	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:17824400-17830200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:17825400-17843400	Weak transcription	Lung	lung
20	chr11:17825600-17828600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:17825600-17829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:17825600-17832400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:17825800-17828400	Weak transcription	Brain Anterior Caudate	brain
24	chr11:17825800-17828600	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:17825800-17829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:17825800-17832000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:17826000-17827800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:17826000-17827800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:17826000-17828000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:17826000-17828200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:17826000-17828400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17826000-17832400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:17826600-17829200	Enhancers	Left Ventricle	heart
34	chr11:17826600-17832200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:17826800-17827400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:17826800-17829400	Enhancers	Right Atrium	heart
37	chr11:17826800-17829600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:17827000-17827600	Enhancers	Right Ventricle	heart
39	chr11:17827000-17828200	Enhancers	Psoas Muscle	Psoas
40	chr11:17827000-17829600	Enhancers	Fetal Heart	heart
41	chr11:17827200-17827400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:17827200-17829000	Weak transcription	Gastric	stomach
43	chr11:17827200-17829400	Enhancers	HSMMtube	muscle

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