Variant report

Variant	rs4297478
Chromosome Location	chr11:120435854-120435855
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: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11599940	0.92[AMR][1000 genomes]
rs11600436	0.83[AMR][1000 genomes]
rs11601826	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602075	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603180	0.86[AMR][1000 genomes]
rs11824600	0.80[AMR][1000 genomes]
rs12284644	0.87[EUR][1000 genomes]
rs12574365	0.89[EUR][1000 genomes]
rs12575259	0.93[ASN][1000 genomes]
rs12575945	0.86[ASN][1000 genomes]
rs1573789	0.86[AMR][1000 genomes]
rs17311310	0.86[AMR][1000 genomes]
rs17311317	0.86[AMR][1000 genomes]
rs17311324	0.86[AMR][1000 genomes]
rs3892497	0.84[AMR][1000 genomes]
rs4298914	0.95[EUR][1000 genomes]
rs4561221	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4936520	0.90[EUR][1000 genomes]
rs4936521	0.85[AMR][1000 genomes]
rs61900897	0.83[AMR][1000 genomes]
rs61900900	0.83[AMR][1000 genomes]
rs7103821	0.89[EUR][1000 genomes]
rs73000621	0.92[AMR][1000 genomes]
rs7929781	0.89[EUR][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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120434200-120436000	Bivalent Enhancer	Fetal Brain Male	brain
2	chr11:120434400-120436000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:120434400-120436000	Enhancers	Spleen	Spleen
4	chr11:120434400-120436200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:120434600-120436000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:120434600-120436000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120434600-120436000	Bivalent Enhancer	Fetal Heart	heart
8	chr11:120434600-120436200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr11:120434600-120436400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr11:120434800-120436000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:120434800-120436000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:120434800-120436000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:120434800-120436000	Active TSS	Brain Anterior Caudate	brain
14	chr11:120435000-120436000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:120435000-120436000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:120435000-120436000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120435000-120436000	Enhancers	Liver	Liver
18	chr11:120435000-120436000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:120435000-120436000	Active TSS	Brain Substantia Nigra	brain
20	chr11:120435000-120436000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr11:120435000-120436000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr11:120435000-120436000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr11:120435000-120436200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:120435000-120436200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:120435000-120436200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:120435000-120436200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:120435000-120436200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr11:120435200-120436000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:120435200-120436000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:120435200-120436000	Active TSS	Brain Angular Gyrus	brain
31	chr11:120435200-120436000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr11:120435200-120436000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:120435200-120436000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr11:120435200-120436200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:120435200-120436200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:120435200-120436200	Enhancers	Placenta	Placenta
37	chr11:120435200-120436200	Active TSS	Psoas Muscle	Psoas
38	chr11:120435200-120436400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:120435400-120436000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
40	chr11:120435400-120436000	Active TSS	Fetal Kidney	kidney
41	chr11:120435400-120436000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr11:120435400-120436200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:120435400-120436200	Flanking Active TSS	HSMM	muscle
44	chr11:120435400-120436600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:120435600-120436000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr11:120435600-120436000	Bivalent/Poised TSS	Fetal Lung	lung
47	chr11:120435600-120436000	Enhancers	Pancreas	Pancrea
48	chr11:120435600-120436200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr11:120435600-120436200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr11:120435600-120436600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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