Variant report

Variant	rs8030811
Chromosome Location	chr15:59357666-59357667
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	chr15:59342261..59345098-chr15:59355959..59358756,2	MCF-7	breast:
2	chr15:59355956..59358210-chr15:59380736..59383195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241640	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518998	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11574500	1.00[AMR][1000 genomes]
rs13498	1.00[AMR][1000 genomes]
rs16940958	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16940976	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941012	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941048	1.00[AMR][1000 genomes]
rs28383495	0.86[AMR][1000 genomes]
rs28739021	1.00[AMR][1000 genomes]
rs28739025	0.85[AMR][1000 genomes]
rs6494052	1.00[AMR][1000 genomes]
rs6494058	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6494067	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164061	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7171252	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173787	1.00[AMR][1000 genomes]
rs7175697	1.00[AMR][1000 genomes]
rs7177112	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7180666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7181728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74017367	0.87[AMR][1000 genomes]
rs8026039	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8027376	0.93[AMR][1000 genomes]
rs8030514	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8032299	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8035952	1.00[AMR][1000 genomes]
rs8040605	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8041633	1.00[AMR][1000 genomes]
rs8042601	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
2	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
3	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
5	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:59332400-59358200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:59342400-59364400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:59342400-59365400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:59344200-59364400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:59344200-59364400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:59344400-59358000	Weak transcription	Right Ventricle	heart
12	chr15:59344400-59363200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr15:59344400-59364200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:59344400-59392800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:59344600-59363200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:59344600-59363800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:59344600-59363800	Strong transcription	Fetal Thymus	thymus
18	chr15:59344800-59363000	Strong transcription	Hela-S3	cervix
19	chr15:59344800-59363200	Strong transcription	Primary B cells from cord blood	blood
20	chr15:59344800-59363800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr15:59344800-59363800	Strong transcription	Dnd41	blood
22	chr15:59344800-59364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:59344800-59364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:59344800-59366400	Strong transcription	Placenta	Placenta
25	chr15:59344800-59370400	Strong transcription	Primary T cells from cord blood	blood
26	chr15:59345000-59363000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:59345200-59363000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:59345200-59363800	Strong transcription	HSMM	muscle
29	chr15:59345400-59363000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:59345400-59363800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:59345400-59365200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:59345800-59365200	Strong transcription	Fetal Intestine Large	intestine
33	chr15:59346600-59362000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:59347000-59360600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:59347600-59359800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr15:59347800-59361000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:59347800-59364400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr15:59348000-59364200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:59348600-59363000	Strong transcription	NH-A	brain
40	chr15:59349000-59366400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:59349000-59367400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr15:59350000-59363200	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:59350600-59361800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:59350600-59362000	Strong transcription	Brain Germinal Matrix	brain
45	chr15:59350800-59361600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:59350800-59384600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:59351000-59373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:59351600-59362200	Strong transcription	Fetal Brain Female	brain
49	chr15:59352000-59360400	Strong transcription	Fetal Lung	lung
50	chr15:59352200-59360600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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