Variant report

Variant	rs2044100
Chromosome Location	chr15:78367316-78367317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
2	chr15:78357782..78360184-chr15:78367009..78369493,4	MCF-7	breast:
3	chr15:78362119..78363904-chr15:78366538..78368474,2	MCF-7	breast:
4	chr15:78365861..78368679-chr6:26247536..26249940,2	MCF-7	breast:
5	chr15:78303690..78306677-chr15:78365888..78368992,3	MCF-7	breast:
6	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1053506	0.89[AFR][1000 genomes]
rs11072725	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072726	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11633329	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633569	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11636889	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11854102	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595595	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12898535	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12900731	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12915731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12915847	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1348256	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17477813	0.82[AFR][1000 genomes]
rs1837912	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2015951	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867984	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3972617	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243073	0.86[AFR][1000 genomes]
rs4886552	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4886556	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4886987	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4886991	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4886993	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4886997	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4886998	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4887001	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4887002	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4997420	0.84[AFR][1000 genomes]
rs61732053	0.97[EUR][1000 genomes]
rs7163997	0.80[AFR][1000 genomes]
rs7169381	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7169882	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170101	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7170286	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170452	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175192	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175235	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7175975	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8025423	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033216	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894295	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894296	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894302	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9788640	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920180	0.92[AFR][1000 genomes];1.00[EUR][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78347400-78367800	Enhancers	Placenta	Placenta
2	chr15:78358800-78367800	Weak transcription	HMEC	breast
3	chr15:78361400-78367800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:78361400-78368000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:78361400-78368000	Weak transcription	Fetal Heart	heart
6	chr15:78361400-78368200	Weak transcription	Brain Germinal Matrix	brain
7	chr15:78361600-78369200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:78362800-78368000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:78362800-78368000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:78362800-78368000	Weak transcription	Esophagus	oesophagus
11	chr15:78362800-78369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:78363000-78368000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:78363000-78368000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:78363200-78368000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78363600-78367800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:78364800-78367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:78365000-78367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:78365000-78368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:78365000-78368000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:78365000-78368000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:78365000-78368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:78365200-78367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:78365200-78367600	Weak transcription	NHEK	skin
24	chr15:78365200-78367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:78365200-78367800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr15:78365200-78367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:78365200-78367800	Weak transcription	Right Atrium	heart
28	chr15:78365200-78368000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:78365200-78368000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:78365200-78368000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:78365200-78368000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:78365200-78368000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:78365200-78368000	Weak transcription	Gastric	stomach
34	chr15:78365200-78368000	Weak transcription	Lung	lung
35	chr15:78365200-78368000	Weak transcription	K562	blood
36	chr15:78365200-78368200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:78365200-78368200	Weak transcription	Right Ventricle	heart
38	chr15:78365200-78368400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:78365200-78368400	Weak transcription	Fetal Brain Female	brain
40	chr15:78365400-78367800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:78365400-78367800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:78365400-78367800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:78365400-78367800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:78365400-78367800	Enhancers	Liver	Liver
45	chr15:78365400-78367800	Weak transcription	A549	lung
46	chr15:78365400-78368000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:78365400-78368000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:78365400-78368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:78365400-78368000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:78365400-78368000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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