Variant report

Variant	rs61736664
Chromosome Location	chr5:126860223-126860224
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	chr5:126851024..126854935-chr5:126857550..126860318,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17164785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17839686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55654285	0.93[EUR][1000 genomes]
rs55749092	0.93[EUR][1000 genomes]
rs58380010	0.93[EUR][1000 genomes]
rs61220586	0.93[EUR][1000 genomes]
rs6875028	0.93[EUR][1000 genomes]
rs6894854	0.93[EUR][1000 genomes]
rs73783907	0.93[EUR][1000 genomes]
rs73783908	0.93[EUR][1000 genomes]
rs73783909	0.93[EUR][1000 genomes]
rs73783910	0.93[EUR][1000 genomes]
rs73783911	0.93[EUR][1000 genomes]
rs73783912	0.93[EUR][1000 genomes]
rs73783913	0.93[EUR][1000 genomes]
rs73783914	0.93[EUR][1000 genomes]
rs73783917	0.93[EUR][1000 genomes]
rs73783918	0.93[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers 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 target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126854400-126861000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:126854400-126864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126855200-126860400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
5	chr5:126855600-126860800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:126855600-126872200	Strong transcription	Fetal Intestine Large	intestine
7	chr5:126855800-126869400	Weak transcription	Psoas Muscle	Psoas
8	chr5:126856000-126863800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:126856000-126876400	Strong transcription	NH-A	brain
10	chr5:126856200-126876200	Strong transcription	NHDF-Ad	bronchial
11	chr5:126856200-126877000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:126856600-126863600	Strong transcription	Primary B cells from cord blood	blood
13	chr5:126856600-126865400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:126857200-126867400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:126857200-126875800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:126857200-126876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:126857400-126867400	Strong transcription	Dnd41	blood
18	chr5:126857600-126876400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr5:126857600-126876800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:126857600-126877000	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr5:126857800-126860800	Weak transcription	Fetal Heart	heart
22	chr5:126857800-126862000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:126857800-126863800	Strong transcription	NHEK	skin
24	chr5:126857800-126864000	Weak transcription	K562	blood
25	chr5:126857800-126866800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:126857800-126872600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:126857800-126875400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:126857800-126875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:126857800-126876400	Strong transcription	HSMM	muscle
30	chr5:126857800-126876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:126857800-126877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:126857800-126877000	Strong transcription	Liver	Liver
33	chr5:126858000-126861000	Strong transcription	Fetal Stomach	stomach
34	chr5:126858000-126862600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:126858200-126860400	Weak transcription	Fetal Brain Male	brain
36	chr5:126858200-126873600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:126858200-126874600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:126858200-126874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:126858200-126876600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:126858400-126860600	Strong transcription	Fetal Intestine Small	intestine
41	chr5:126858400-126863400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr5:126858400-126863400	Strong transcription	Fetal Muscle Leg	muscle
43	chr5:126858400-126876400	Strong transcription	Fetal Thymus	thymus
44	chr5:126858600-126864000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:126858600-126875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:126858600-126876400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:126858600-126876600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:126858600-126877000	Strong transcription	Placenta	Placenta
49	chr5:126858800-126861200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:126858800-126862200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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