Variant report

Variant	rs55861597
Chromosome Location	chr11:72331873-72331874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72329455..72332319-chr11:72346728..72350252,3	MCF-7	breast:
2	chr11:72326146..72327953-chr11:72330233..72332676,2	K562	blood:
3	chr11:72325568..72327953-chr11:72330233..72332258,3	K562	blood:
4	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272036	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11235547	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1513780	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781931	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3781934	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4944563	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944566	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55738331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56210510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754042	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs755933	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs904469	0.81[AMR][1000 genomes];0.95[EUR][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	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72326600-72332800	Genic enhancers	Spleen	Spleen
2	chr11:72327600-72335600	Weak transcription	Esophagus	oesophagus
3	chr11:72329200-72335400	Weak transcription	Fetal Brain Female	brain
4	chr11:72329200-72335600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:72329400-72334200	Weak transcription	Right Atrium	heart
6	chr11:72329400-72335800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:72329600-72332200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:72329600-72332400	Weak transcription	Lung	lung
9	chr11:72329600-72335400	Weak transcription	Brain Anterior Caudate	brain
10	chr11:72329600-72335400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:72329600-72336000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:72330000-72334800	Weak transcription	Left Ventricle	heart
13	chr11:72330600-72332600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:72330600-72335600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:72330600-72335600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:72330600-72335800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:72330600-72336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:72330800-72334800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:72331000-72332200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:72331000-72332400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:72331000-72332600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:72331000-72332600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr11:72331000-72333000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:72331200-72332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:72331200-72332600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:72331200-72332800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:72331200-72332800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:72331200-72335200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:72331200-72335400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:72331200-72335600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:72331200-72335600	Weak transcription	Right Ventricle	heart
32	chr11:72331400-72332200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:72331400-72332400	Enhancers	Primary T cells from cord blood	blood
34	chr11:72331400-72332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:72331400-72332800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:72331400-72333600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:72331400-72335800	Weak transcription	Fetal Brain Male	brain
38	chr11:72331400-72341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:72331600-72332400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:72331600-72332600	Enhancers	Primary B cells from cord blood	blood
41	chr11:72331600-72332600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:72331600-72332600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:72331600-72335400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:72331600-72335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:72331600-72336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:72331800-72332000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:72331800-72332000	Enhancers	Fetal Stomach	stomach
48	chr11:72331800-72332200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:72331800-72332600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:72331800-72332600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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