Variant report

Variant	rs2252959
Chromosome Location	chr15:44483983-44483984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44482443..44484815-chr15:44485783..44488334,2	MCF-7	breast:
2	chr15:44483275..44485560-chr15:44485692..44487954,2	K562	blood:

Variant related genes	Relation type
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10459588	1.00[ASN][1000 genomes]
rs11635948	0.87[ASN][1000 genomes]
rs12900880	0.88[ASN][1000 genomes]
rs12910886	1.00[ASN][1000 genomes]
rs1426658	0.88[ASN][1000 genomes]
rs16952932	0.83[ASN][1000 genomes]
rs16958670	1.00[ASN][1000 genomes]
rs16958691	1.00[ASN][1000 genomes]
rs1820482	1.00[ASN][1000 genomes]
rs2615279	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696085	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2696086	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2696088	0.91[ASN][1000 genomes]
rs2696091	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696097	1.00[AMR][1000 genomes]
rs28479591	1.00[ASN][1000 genomes]
rs28656778	1.00[ASN][1000 genomes]
rs28832708	1.00[ASN][1000 genomes]
rs2950619	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950620	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2950622	1.00[AMR][1000 genomes]
rs2952447	0.91[ASN][1000 genomes]
rs4924728	0.95[ASN][1000 genomes]
rs57575746	0.96[ASN][1000 genomes]
rs58008065	1.00[ASN][1000 genomes]
rs58278421	0.83[ASN][1000 genomes]
rs58355014	1.00[AMR][1000 genomes]
rs58541819	0.83[ASN][1000 genomes]
rs58882193	1.00[ASN][1000 genomes]
rs60536495	0.88[ASN][1000 genomes]
rs6493094	0.88[ASN][1000 genomes]
rs6493096	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6493098	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7162529	0.95[ASN][1000 genomes]
rs7179696	0.95[ASN][1000 genomes]
rs8029187	0.88[ASN][1000 genomes]
rs8029425	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44457200-44484200	Weak transcription	NH-A	brain
2	chr15:44477400-44484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:44478200-44484800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr15:44479200-44484400	Weak transcription	Fetal Brain Female	brain
5	chr15:44480000-44484600	Weak transcription	Brain Germinal Matrix	brain
6	chr15:44481200-44484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:44481400-44485600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:44481600-44484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:44482000-44485200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:44482200-44484400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:44482600-44484200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:44482600-44484200	Weak transcription	HUVEC	blood vessel
13	chr15:44482600-44484400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:44482600-44485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:44482800-44484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:44483000-44484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:44483000-44484200	Weak transcription	Brain Angular Gyrus	brain
18	chr15:44483000-44484200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:44483000-44484200	Weak transcription	Fetal Heart	heart
20	chr15:44483200-44484200	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:44483400-44484200	Weak transcription	Brain Anterior Caudate	brain
22	chr15:44483600-44484200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:44483600-44484200	Weak transcription	Brain Substantia Nigra	brain
24	chr15:44483600-44484200	Enhancers	HMEC	breast
25	chr15:44483800-44484000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr15:44483800-44484200	Enhancers	NHEK	skin
27	chr15:44483800-44484400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:44483800-44485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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