Variant report

Variant	rs2231291
Chromosome Location	chr15:52405102-52405103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:52403762-52405802	NB4	blood:	n/a	n/a
2	MAX	chr15:52404933-52405322	NB4	blood:	n/a	chr15:52405114-52405130 chr15:52405125-52405132 chr15:52405121-52405136
3	MYC	chr15:52404760-52405675	NB4	blood:	n/a	chr15:52405114-52405130 chr15:52405125-52405132 chr15:52405121-52405136

No.	Distal block	Cell Line	Cell type
1	chr15:52263208..52265625-chr15:52404085..52407650,4	MCF-7	breast:
2	chr15:52404951..52408390-chr15:52415652..52417848,3	K562	blood:
3	chr15:52404587..52406331-chr15:52432467..52434245,2	MCF-7	breast:
4	chr15:52403961..52406655-chr15:52470750..52472609,2	MCF-7	breast:
5	chr15:52404464..52407280-chr15:52415315..52418015,2	MCF-7	breast:
6	chr15:52309956..52312123-chr15:52404856..52406463,2	MCF-7	breast:

Variant related genes	Relation type
BCL2L10	TF binding region
ENSG00000259327	TF binding region
ENSG00000166477	Chromatin interaction
ENSG00000259709	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000259577	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12442314	1.00[AFR][1000 genomes]
rs17650194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650206	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2414134	1.00[ASN][1000 genomes]
rs2470597	1.00[EUR][1000 genomes]
rs2959280	1.00[EUR][1000 genomes]
rs2959281	1.00[EUR][1000 genomes]
rs3751625	1.00[AFR][1000 genomes]
rs3751628	1.00[AFR][1000 genomes]
rs4502161	1.00[EUR][1000 genomes]
rs58537089	1.00[EUR][1000 genomes]
rs6493537	0.88[ASN][1000 genomes]
rs73402825	0.88[ASN][1000 genomes]
rs73402856	1.00[ASN][1000 genomes]
rs754658	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8034075	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52402200-52411400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:52402400-52405600	Weak transcription	HepG2	liver
3	chr15:52404000-52405400	Enhancers	Spleen	Spleen
4	chr15:52404400-52405200	Active TSS	Primary hematopoietic stem cells	blood
5	chr15:52404600-52405200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:52404600-52405200	Active TSS	Liver	Liver
7	chr15:52404800-52405200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:52404800-52405200	Active TSS	NHEK	skin
9	chr15:52404800-52405400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr15:52404800-52405600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr15:52404800-52405800	Active TSS	Duodenum Mucosa	Duodenum
12	chr15:52404800-52405800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr15:52404800-52406600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:52404800-52406800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:52404800-52407600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:52404800-52407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:52404800-52408000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:52404800-52408200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:52404800-52408400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:52404800-52409800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:52404800-52410600	Enhancers	Adipose Nuclei	Adipose
22	chr15:52404800-52416400	Weak transcription	Aorta	Aorta
23	chr15:52404800-52428000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:52405000-52405200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:52405000-52405200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:52405000-52405200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:52405000-52405200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:52405000-52405200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr15:52405000-52405200	Weak transcription	Fetal Intestine Small	intestine
30	chr15:52405000-52405200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr15:52405000-52405600	Weak transcription	GM12878-XiMat	blood
32	chr15:52405000-52405800	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr15:52405000-52406200	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:52405000-52406200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:52405000-52406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:52405000-52406400	Weak transcription	Pancreas	Pancrea
37	chr15:52405000-52406600	Weak transcription	Brain Angular Gyrus	brain
38	chr15:52405000-52406600	Weak transcription	Brain Substantia Nigra	brain
39	chr15:52405000-52407600	Weak transcription	HUVEC	blood vessel
40	chr15:52405000-52407800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:52405000-52407800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:52405000-52408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr15:52405000-52408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:52405000-52408400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:52405000-52409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:52405000-52411800	Weak transcription	Ovary	ovary
47	chr15:52405000-52412000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:52405000-52413200	Weak transcription	Primary T cells from cord blood	blood
49	chr15:52405000-52414800	Weak transcription	Primary B cells from cord blood	blood
50	chr15:52405000-52416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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