Variant report

Variant	rs73485077
Chromosome Location	chr13:48843745-48843746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48842870..48845790-chr13:48847077..48849095,2	MCF-7	breast:
2	chr13:48806447..48808014-chr13:48842820..48844768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1002865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556899	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34692420	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151479	0.81[AFR][1000 genomes]
rs4151522	0.84[AFR][1000 genomes]
rs4151524	0.84[AFR][1000 genomes]
rs56835880	1.00[EUR][1000 genomes]
rs56955865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60372626	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61683759	1.00[EUR][1000 genomes]
rs73485079	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487048	1.00[EUR][1000 genomes]
rs73487051	1.00[EUR][1000 genomes]
rs73487055	1.00[EUR][1000 genomes]
rs73487056	1.00[EUR][1000 genomes]
rs73487058	1.00[EUR][1000 genomes]
rs74075993	0.84[AFR][1000 genomes]
rs7983535	1.00[EUR][1000 genomes]
rs7986777	1.00[EUR][1000 genomes]
rs7993670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996717	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332246	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9332285	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595874	0.94[ASN][1000 genomes]
rs9595875	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
5	chr13:48832800-48845200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:48833600-48844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
8	chr13:48835800-48849400	Weak transcription	NHLF	lung
9	chr13:48837800-48848000	Weak transcription	A549	lung
10	chr13:48837800-48848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48837800-48848600	Weak transcription	Fetal Brain Female	brain
12	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:48838000-48845200	Weak transcription	Brain Germinal Matrix	brain
15	chr13:48838000-48845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:48838000-48845600	Weak transcription	HMEC	breast
17	chr13:48838000-48847000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr13:48838000-48847800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:48838000-48847800	Weak transcription	Psoas Muscle	Psoas
20	chr13:48838000-48849600	Weak transcription	Right Ventricle	heart
21	chr13:48838000-48850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:48838000-48850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
24	chr13:48838200-48845400	Weak transcription	Fetal Intestine Large	intestine
25	chr13:48838200-48849600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48838400-48845200	Weak transcription	Osteobl	bone
27	chr13:48838400-48846600	Weak transcription	NHDF-Ad	bronchial
28	chr13:48838400-48847000	Weak transcription	Brain Substantia Nigra	brain
29	chr13:48838600-48843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:48839200-48845200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr13:48839200-48846200	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:48839800-48844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:48839800-48845000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:48839800-48845600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:48839800-48845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:48839800-48848600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:48840000-48844800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr13:48840000-48845200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:48840000-48851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:48840200-48846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:48840600-48844000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:48840800-48844200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:48841600-48844400	Strong transcription	Primary B cells from cord blood	blood
45	chr13:48841600-48844600	Weak transcription	Fetal Brain Male	brain
46	chr13:48841800-48843800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:48841800-48844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:48841800-48846200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:48841800-48852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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