Variant report

Variant	rs4757678
Chromosome Location	chr11:18648179-18648180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18646819..18652740-chr11:18653363..18657405,11	K562	blood:
2	chr11:18556057..18558147-chr11:18647065..18649830,2	MCF-7	breast:
3	chr11:18647229..18652774-chr11:18654335..18657734,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179119	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10128711	1.00[YRI][hapmap]
rs10500834	0.91[YRI][hapmap]
rs10734261	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832948	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832949	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832956	1.00[YRI][hapmap]
rs10832957	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10832962	1.00[YRI][hapmap]
rs11024737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024739	1.00[YRI][hapmap]
rs11024745	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607095	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365747	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166519	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403321	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4373895	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757679	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934205	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943121	1.00[YRI][hapmap]
rs7943131	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	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
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
3	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:18637400-18654400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:18637400-18654400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:18637400-18654800	Weak transcription	Esophagus	oesophagus
7	chr11:18637400-18654800	Weak transcription	Lung	lung
8	chr11:18637400-18654800	Weak transcription	Pancreas	Pancrea
9	chr11:18637600-18650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:18637600-18650600	Weak transcription	Gastric	stomach
11	chr11:18637600-18654000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:18637600-18654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:18637600-18654200	Weak transcription	Hela-S3	cervix
14	chr11:18637600-18654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:18637600-18654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:18637600-18654400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:18637600-18654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:18637600-18654800	Weak transcription	Right Ventricle	heart
19	chr11:18637600-18654800	Weak transcription	Spleen	Spleen
20	chr11:18637800-18654800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:18637800-18654800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:18637800-18654800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:18638000-18650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:18638000-18654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:18638000-18654400	Weak transcription	Fetal Intestine Large	intestine
26	chr11:18638000-18654600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:18638200-18654800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:18638400-18654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:18638400-18654400	Weak transcription	K562	blood
30	chr11:18638400-18654800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:18638800-18649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:18640200-18654600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:18640400-18654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:18640400-18654200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:18640400-18654400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:18640400-18654400	Weak transcription	HepG2	liver
37	chr11:18640400-18654800	Weak transcription	Aorta	Aorta
38	chr11:18640600-18648400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:18640600-18654200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:18640600-18654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:18640600-18654400	Weak transcription	A549	lung
42	chr11:18640600-18654400	Weak transcription	NH-A	brain
43	chr11:18640600-18654600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:18640600-18654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:18640600-18654800	Weak transcription	Thymus	Thymus
46	chr11:18640800-18654200	Weak transcription	NHEK	skin
47	chr11:18640800-18654800	Weak transcription	HSMM	muscle
48	chr11:18641000-18649400	Weak transcription	Fetal Heart	heart
49	chr11:18641000-18654200	Weak transcription	Liver	Liver
50	chr11:18641000-18654200	Weak transcription	Osteobl	bone

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