Variant report

Variant	rs4980515
Chromosome Location	chr11:63744609-63744610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63714375..63717341-chr11:63743522..63745649,2	K562	blood:
2	chr11:63719230..63721081-chr11:63742511..63745293,2	K562	blood:
3	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
4	chr11:63744148..63748440-chr11:63764660..63767519,3	K562	blood:
5	chr11:63742451..63744007-chr11:63744491..63747148,2	MCF-7	breast:
6	chr11:63744148..63746964-chr11:63765815..63767519,2	K562	blood:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10897468	0.80[EUR][1000 genomes]
rs480211	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540389	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63742600-63746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
3	chr11:63743800-63745200	Genic enhancers	Fetal Muscle Leg	muscle
4	chr11:63744000-63745400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:63744000-63746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63744000-63753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:63744000-63753000	Weak transcription	Fetal Kidney	kidney
8	chr11:63744000-63753000	Weak transcription	Small Intestine	intestine
9	chr11:63744200-63745000	Active TSS	GM12878-XiMat	blood
10	chr11:63744200-63745600	Weak transcription	Lung	lung
11	chr11:63744200-63746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:63744200-63746000	Weak transcription	Fetal Brain Female	brain
13	chr11:63744200-63746000	Weak transcription	Gastric	stomach
14	chr11:63744200-63746200	Weak transcription	Right Atrium	heart
15	chr11:63744200-63746400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:63744200-63747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:63744200-63749000	Weak transcription	Primary B cells from cord blood	blood
18	chr11:63744200-63749600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:63744200-63749800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:63744200-63749800	Weak transcription	NHDF-Ad	bronchial
21	chr11:63744200-63753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:63744200-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:63744400-63744800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:63744400-63744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:63744400-63744800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63744400-63744800	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr11:63744400-63744800	Weak transcription	Thymus	Thymus
28	chr11:63744400-63744800	Genic enhancers	NHEK	skin
29	chr11:63744400-63745000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:63744400-63745000	Enhancers	Brain Hippocampus Middle	brain
31	chr11:63744400-63745000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:63744400-63745000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:63744400-63745000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:63744400-63745000	Genic enhancers	Dnd41	blood
35	chr11:63744400-63745200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:63744400-63745200	Enhancers	Liver	Liver
37	chr11:63744400-63745200	Enhancers	Fetal Heart	heart
38	chr11:63744400-63745200	Genic enhancers	K562	blood
39	chr11:63744400-63745400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:63744400-63745400	Enhancers	HepG2	liver
41	chr11:63744400-63745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:63744400-63745800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:63744400-63746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:63744400-63746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:63744400-63746000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:63744400-63746000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:63744400-63746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:63744400-63746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:63744400-63746000	Weak transcription	Brain Anterior Caudate	brain
50	chr11:63744400-63746000	Weak transcription	Brain Germinal Matrix	brain

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