Variant report

Variant	rs59997416
Chromosome Location	chr15:44581600-44581601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44580040..44582785-chr15:44587242..44592291,5	K562	blood:
2	chr15:44581353..44583022-chr15:44719175..44720728,2	K562	blood:
3	chr15:44579788..44582534-chr15:44587472..44590995,5	K562	blood:
4	chr15:44580352..44582378-chr15:44719445..44721367,2	MCF-7	breast:
5	chr15:44579706..44582433-chr15:44718054..44720169,2	MCF-7	breast:
6	chr15:44580463..44582588-chr15:44587860..44590321,2	MCF-7	breast:
7	chr15:44580146..44582349-chr15:44827451..44829460,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137770	Chromatin interaction
ENSG00000203575	Chromatin interaction
ENSG00000179523	Chromatin interaction
ENSG00000259595	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10152710	0.88[EUR][1000 genomes]
rs1021800	0.88[EUR][1000 genomes]
rs10467977	0.94[EUR][1000 genomes]
rs12591178	0.94[EUR][1000 genomes]
rs12591581	0.88[EUR][1000 genomes]
rs12591811	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592995	0.94[EUR][1000 genomes]
rs12593125	0.94[EUR][1000 genomes]
rs12593325	0.88[EUR][1000 genomes]
rs12593686	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12593943	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594110	0.88[EUR][1000 genomes]
rs12594139	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594167	0.94[EUR][1000 genomes]
rs12594621	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594645	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594746	0.94[EUR][1000 genomes]
rs12595484	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17551416	0.88[EUR][1000 genomes]
rs2055061	0.94[EUR][1000 genomes]
rs2288341	0.88[EUR][1000 genomes]
rs2412883	0.94[EUR][1000 genomes]
rs2433350	0.94[EUR][1000 genomes]
rs2555353	0.94[EUR][1000 genomes]
rs2556566	0.94[EUR][1000 genomes]
rs2556567	0.88[EUR][1000 genomes]
rs28508235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28561508	0.94[EUR][1000 genomes]
rs2899113	0.88[EUR][1000 genomes]
rs35555389	0.94[EUR][1000 genomes]
rs3784565	0.94[EUR][1000 genomes]
rs3784567	0.94[EUR][1000 genomes]
rs3809471	0.94[EUR][1000 genomes]
rs3816928	0.94[EUR][1000 genomes]
rs3986142	0.94[EUR][1000 genomes]
rs3986143	0.94[EUR][1000 genomes]
rs4146283	0.80[AFR][1000 genomes]
rs4415978	0.94[EUR][1000 genomes]
rs4477677	0.94[EUR][1000 genomes]
rs4577056	0.94[EUR][1000 genomes]
rs4924746	0.93[ASN][1000 genomes]
rs57270586	0.94[EUR][1000 genomes]
rs58956090	0.94[EUR][1000 genomes]
rs59230801	0.94[EUR][1000 genomes]
rs60003667	0.94[EUR][1000 genomes]
rs60399672	0.94[EUR][1000 genomes]
rs61185650	0.94[EUR][1000 genomes]
rs61234123	0.94[EUR][1000 genomes]
rs61258861	0.94[EUR][1000 genomes]
rs61278540	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61329003	0.94[EUR][1000 genomes]
rs61501839	0.94[EUR][1000 genomes]
rs6493103	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7162671	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7162802	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7163529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7164709	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7166278	0.94[EUR][1000 genomes]
rs7166945	0.94[EUR][1000 genomes]
rs7167752	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169333	0.94[EUR][1000 genomes]
rs7170248	0.94[EUR][1000 genomes]
rs7172106	0.94[EUR][1000 genomes]
rs7175200	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178318	0.94[EUR][1000 genomes]
rs7179894	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181772	0.94[EUR][1000 genomes]
rs7183109	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8023453	0.94[EUR][1000 genomes]
rs8024623	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8024805	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8025727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8025876	0.94[EUR][1000 genomes]
rs8025955	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8026945	0.94[EUR][1000 genomes]
rs8027036	0.94[EUR][1000 genomes]
rs8028509	0.94[EUR][1000 genomes]
rs8028907	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8032079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8037395	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883943	0.94[EUR][1000 genomes]
rs9672237	0.94[EUR][1000 genomes]
rs9673085	0.94[EUR][1000 genomes]
rs9806725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44579200-44581600	Active TSS	Duodenum Mucosa	Duodenum
2	chr15:44579200-44581800	Active TSS	Brain Substantia Nigra	brain
3	chr15:44579200-44581800	Active TSS	Fetal Brain Female	brain
4	chr15:44579200-44582000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:44579200-44582000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:44579200-44582200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:44579200-44582600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:44579200-44582600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:44579200-44582600	Active TSS	Brain Angular Gyrus	brain
10	chr15:44579200-44582600	Active TSS	HMEC	breast
11	chr15:44579400-44581600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr15:44579400-44581600	Active TSS	Fetal Muscle Leg	muscle
13	chr15:44579400-44582000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr15:44579400-44582400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:44579400-44582400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:44579400-44582400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:44579400-44582600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:44579400-44582600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:44579400-44582600	Active TSS	Brain Cingulate Gyrus	brain
20	chr15:44579400-44582800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr15:44579400-44582800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:44579400-44582800	Active TSS	Right Atrium	heart
23	chr15:44579400-44582800	Active TSS	NHDF-Ad	bronchial
24	chr15:44579400-44583000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:44579400-44583000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:44579400-44583000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr15:44579400-44583600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:44579400-44584000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:44579600-44581600	Active TSS	Fetal Thymus	thymus
30	chr15:44579600-44581600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr15:44579600-44581600	Active TSS	Thymus	Thymus
32	chr15:44579600-44581800	Active TSS	Fetal Stomach	stomach
33	chr15:44579600-44582000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr15:44579600-44582000	Active TSS	Aorta	Aorta
35	chr15:44579600-44582000	Active TSS	Fetal Intestine Large	intestine
36	chr15:44579600-44582000	Active TSS	Fetal Muscle Trunk	muscle
37	chr15:44579600-44582000	Active TSS	Osteobl	bone
38	chr15:44579600-44582200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr15:44579600-44582200	Active TSS	Ovary	ovary
40	chr15:44579600-44582200	Active TSS	Psoas Muscle	Psoas
41	chr15:44579600-44582400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:44579600-44582400	Active TSS	NH-A	brain
43	chr15:44579600-44582600	Active TSS	Brain Hippocampus Middle	brain
44	chr15:44579600-44582600	Active TSS	A549	lung
45	chr15:44579600-44582600	Active TSS	HSMMtube	muscle
46	chr15:44579600-44582800	Active TSS	Right Ventricle	heart
47	chr15:44579600-44583400	Active TSS	K562	blood
48	chr15:44579600-44585000	Active TSS	GM12878-XiMat	blood
49	chr15:44579800-44581600	Active TSS	Primary B cells from peripheral blood	blood
50	chr15:44579800-44581600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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