Variant report

Variant	rs2305712
Chromosome Location	chr15:51980612-51980613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51974117..51976857-chr15:51978812..51980643,2	MCF-7	breast:
2	chr15:51964695..51967594-chr15:51978181..51980955,2	MCF-7	breast:
3	chr15:51974418..51976599-chr15:51979066..51980619,2	K562	blood:
4	chr15:51972908..51975133-chr15:51978339..51981508,3	MCF-7	breast:
5	chr15:51978743..51984253-chr15:51984583..51988197,6	MCF-7	breast:
6	chr15:51971321..51974320-chr15:51980562..51984301,3	K562	blood:

Variant related genes	Relation type
ENSG00000259241	Chromatin interaction
ENSG00000104112	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519314	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519315	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519316	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519318	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519319	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519320	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519321	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16964465	0.87[ASN][1000 genomes]
rs16964476	0.87[ASN][1000 genomes]
rs17648801	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2124588	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2124589	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2124590	0.87[ASN][1000 genomes]
rs2305709	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2305711	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2305715	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2305719	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2622770	0.81[ASN][1000 genomes]
rs3214014	0.87[ASN][1000 genomes]
rs3764220	0.87[ASN][1000 genomes]
rs3765067	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3809498	0.87[ASN][1000 genomes]
rs3816544	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs41286490	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs41286492	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60337239	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60437890	0.87[ASN][1000 genomes]
rs60934476	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8023804	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51974200-52018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:51974400-51983400	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:51974400-51990800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:51974400-52005200	Weak transcription	Brain Anterior Caudate	brain
5	chr15:51974600-51983000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:51974600-51983200	Weak transcription	K562	blood
7	chr15:51974600-51984200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:51974600-51991000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:51974600-52016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:51974800-51984600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:51975000-51982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:51975000-51993200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:51975200-51998400	Weak transcription	Brain Angular Gyrus	brain
14	chr15:51975600-52017200	Weak transcription	Fetal Brain Male	brain
15	chr15:51976800-51983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:51978600-51990600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:51978800-51982200	Weak transcription	Fetal Brain Female	brain
18	chr15:51979600-51982000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:51979800-51984400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:51980200-51988000	Strong transcription	Brain Germinal Matrix	brain
21	chr15:51980400-51981200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:51980600-51981000	Enhancers	NHEK	skin

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