Variant report

Variant	rs4278519
Chromosome Location	chr11:120437188-120437189
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	chr11:120433729..120435312-chr11:120435660..120438456,2	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11217918	0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs11599940	0.91[EUR][1000 genomes]
rs11602493	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11603180	0.89[EUR][1000 genomes]
rs12273026	0.84[ASN][1000 genomes]
rs12273031	0.81[ASN][1000 genomes]
rs12279396	0.96[CEU][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12284644	0.85[AMR][1000 genomes]
rs12295741	0.84[ASN][1000 genomes]
rs12574365	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1573789	0.89[EUR][1000 genomes]
rs17311310	0.89[EUR][1000 genomes]
rs17311317	0.89[EUR][1000 genomes]
rs17311324	0.89[EUR][1000 genomes]
rs2001655	0.84[ASN][1000 genomes]
rs4272790	0.84[YRI][hapmap]
rs4298914	0.81[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4310631	0.84[YRI][hapmap]
rs4447186	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[ASN][1000 genomes]
rs4500499	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4936521	0.88[EUR][1000 genomes]
rs4938818	0.90[EUR][1000 genomes]
rs61201354	0.90[ASN][1000 genomes]
rs61900900	0.90[EUR][1000 genomes]
rs7103821	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs73000621	0.94[EUR][1000 genomes]
rs7929781	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120436000-120437200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120436000-120437200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120436000-120437200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr11:120436000-120437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:120436000-120437400	Enhancers	HSMMtube	muscle
6	chr11:120436200-120437200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:120436200-120437200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:120436200-120437200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:120436200-120437200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr11:120436200-120437200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:120436200-120437200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:120436200-120437200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:120436200-120437200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr11:120436200-120437200	Enhancers	HSMM	muscle
15	chr11:120436200-120437200	Enhancers	NHLF	lung
16	chr11:120436200-120437200	Enhancers	Osteobl	bone
17	chr11:120436200-120437400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr11:120436200-120437400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:120436200-120437400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:120436200-120437400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:120436200-120437400	Enhancers	GM12878-XiMat	blood
22	chr11:120436200-120437400	Enhancers	HMEC	breast
23	chr11:120436400-120437200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:120436400-120437200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:120436400-120437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:120436400-120437200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr11:120436400-120437200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr11:120436400-120437200	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:120436400-120437200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:120436400-120437400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:120436400-120437400	Enhancers	Brain Angular Gyrus	brain
32	chr11:120436400-120437600	Enhancers	NHEK	skin
33	chr11:120436400-120440200	Weak transcription	Fetal Brain Female	brain
34	chr11:120436600-120437200	Enhancers	Brain Anterior Caudate	brain
35	chr11:120436600-120437200	Enhancers	Brain Hippocampus Middle	brain
36	chr11:120436600-120437400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:120436600-120437400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr11:120436600-120437400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr11:120436600-120437400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:120436600-120437400	Enhancers	Hela-S3	cervix
41	chr11:120436600-120439800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:120436800-120437200	Enhancers	Brain Substantia Nigra	brain
43	chr11:120436800-120437400	Enhancers	NH-A	brain
44	chr11:120436800-120438000	Enhancers	HUVEC	blood vessel
45	chr11:120436800-120444800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:120437000-120437200	Enhancers	Psoas Muscle	Psoas
47	chr11:120437000-120437200	Enhancers	Right Atrium	heart
48	chr11:120437000-120437400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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