Variant report

Variant	rs34023258
Chromosome Location	chr15:72448872-72448873
allele	A/T
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	RAD21	chr15:72447870-72448954	MCF-7	breast:	n/a	chr15:72448539-72448558
2	RAD21	chr15:72448083-72448894	MCF-7	breast:	n/a	chr15:72448539-72448558
3	SMC3	chr15:72447140-72448918	SK-N-SH	brain:	n/a	chr15:72448543-72448557
4	CTCF	chr15:72448812-72448876	GM19240	blood:	n/a	n/a
5	TCF12	chr15:72447156-72448931	A549	lung:	n/a	chr15:72447543-72447553 chr15:72447833-72447840
6	CTCF	chr15:72448760-72448910	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr15:72448833-72448924	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr15:72448231-72448933	HCT-116	colon:	n/a	chr15:72448543-72448556 chr15:72448541-72448559
9	ZNF263	chr15:72447523-72448903	HEK293-T-REx	kidney:	n/a	n/a
10	CTCF	chr15:72448800-72448950	AG04449	skin:	n/a	n/a
11	CTCF	chr15:72446967-72449247	A549	lung:	n/a	chr15:72448543-72448556 chr15:72448541-72448559
12	RAD21	chr15:72448024-72449011	A549	lung:	n/a	chr15:72448539-72448558
13	CTCF	chr15:72448820-72448970	GM12868	blood:	n/a	n/a
14	RAD21	chr15:72447214-72448947	ECC-1	luminal epithelium:	n/a	chr15:72447815-72447828 chr15:72448539-72448558
15	CTCF	chr15:72448800-72448950	GM12864	blood:	n/a	n/a
16	RAD21	chr15:72447315-72449103	SK-N-SH	brain:	n/a	chr15:72447815-72447828 chr15:72448539-72448558
17	RAD21	chr15:72448063-72448971	HCT-116	colon:	n/a	chr15:72448539-72448558
18	CTCF	chr15:72448761-72448885	GM10248	blood:	n/a	n/a
19	CTCF	chr15:72447438-72448994	SK-N-SH	brain:	n/a	chr15:72448543-72448556 chr15:72448541-72448559

No.	Distal block	Cell Line	Cell type
1	chr15:72076704..72077706-chr15:72447990..72448967,6	K562	blood:
2	chr15:72094781..72095719-chr15:72448020..72449479,6	K562	blood:
3	chr15:72045078..72045591-chr15:72448055..72448912,2	MCF-7	breast:
4	chr15:72094281..72095669-chr15:72448048..72449003,4	MCF-7	breast:
5	chr15:72072426..72073273-chr15:72448126..72448905,3	MCF-7	breast:
6	chr15:72378259..72378845-chr15:72448189..72448926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260173	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10518987	0.94[ASN][1000 genomes]
rs10732234	1.00[AMR][1000 genomes]
rs11632505	0.88[ASN][1000 genomes]
rs12324744	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12902160	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12905794	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12905947	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12906244	1.00[AMR][1000 genomes]
rs12906356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12906612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907087	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12907377	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12907707	0.88[ASN][1000 genomes]
rs12908241	1.00[ASN][1000 genomes]
rs12908863	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909590	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12910475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12910620	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12911278	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12911285	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12914208	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12914269	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12914312	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915008	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12916039	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916226	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12916298	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12916789	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12917442	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1426169	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2277543	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2288257	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2291276	1.00[AMR][1000 genomes]
rs2912203	0.88[ASN][1000 genomes]
rs2912204	0.88[ASN][1000 genomes]
rs2912215	0.88[ASN][1000 genomes]
rs2912222	0.88[ASN][1000 genomes]
rs2912224	0.88[ASN][1000 genomes]
rs2912225	0.88[ASN][1000 genomes]
rs2957751	0.94[ASN][1000 genomes]
rs2957752	1.00[ASN][1000 genomes]
rs2959916	0.88[ASN][1000 genomes]
rs2959917	0.88[ASN][1000 genomes]
rs2959918	0.88[ASN][1000 genomes]
rs2959919	0.88[ASN][1000 genomes]
rs2959923	0.88[ASN][1000 genomes]
rs2959924	0.88[ASN][1000 genomes]
rs2959927	0.88[ASN][1000 genomes]
rs2959929	0.88[ASN][1000 genomes]
rs2959931	0.88[ASN][1000 genomes]
rs2959933	0.88[ASN][1000 genomes]
rs2959935	0.88[ASN][1000 genomes]
rs34115124	0.88[ASN][1000 genomes]
rs34211376	0.88[ASN][1000 genomes]
rs34294127	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34346715	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34362323	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34382909	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34481625	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34505994	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34511502	0.88[ASN][1000 genomes]
rs34538801	0.88[ASN][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34658339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34677662	0.88[ASN][1000 genomes]
rs34694253	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705283	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34789424	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34815962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35061524	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35071085	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35104697	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35136885	1.00[AMR][1000 genomes]
rs35144689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35202897	0.88[ASN][1000 genomes]
rs35259670	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35285520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35288005	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35362359	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35378070	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35408293	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35457238	0.88[ASN][1000 genomes]
rs35491098	0.87[ASN][1000 genomes]
rs35554838	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35694406	0.94[ASN][1000 genomes]
rs35836103	1.00[AMR][1000 genomes]
rs36110969	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3743227	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3743228	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3743229	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3759817	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3759819	0.87[ASN][1000 genomes]
rs3759821	0.87[ASN][1000 genomes]
rs3759901	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3825949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55935015	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57420281	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57692836	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58352854	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs66608810	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67195650	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71395049	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71395050	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71395056	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71395057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71395058	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71395061	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71395066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71395068	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71395070	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71395074	0.88[ASN][1000 genomes]
rs71397231	0.88[ASN][1000 genomes]
rs71397232	0.88[ASN][1000 genomes]
rs71397233	0.88[ASN][1000 genomes]
rs71411063	0.88[ASN][1000 genomes]
rs7169150	0.94[ASN][1000 genomes]
rs7174264	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73438446	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192359	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192387	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192397	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs890312	1.00[AMR][1000 genomes]
rs9806184	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9806204	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
6	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72447400-72449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:72447400-72449000	Active TSS	Colonic Mucosa	Colon
3	chr15:72447400-72449000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr15:72447400-72449200	Active TSS	Fetal Kidney	kidney
5	chr15:72447600-72449000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:72448400-72453000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:72448400-72458800	Weak transcription	Spleen	Spleen
8	chr15:72448400-72460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:72448600-72449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:72448600-72449000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr15:72448600-72449000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:72448600-72449000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr15:72448600-72449000	Enhancers	GM12878-XiMat	blood
14	chr15:72448600-72449800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:72448600-72453400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:72448600-72453800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:72448600-72453800	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:72448600-72456200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:72448600-72458600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:72448600-72460800	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:72448600-72460800	Weak transcription	Right Atrium	heart
22	chr15:72448800-72449000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:72448800-72449000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:72448800-72449000	Enhancers	Hela-S3	cervix
25	chr15:72448800-72449000	Enhancers	HMEC	breast
26	chr15:72448800-72449200	Enhancers	Primary B cells from cord blood	blood
27	chr15:72448800-72449200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr15:72448800-72449200	Enhancers	A549	lung
29	chr15:72448800-72449600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:72448800-72449800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:72448800-72451600	Weak transcription	Placenta	Placenta
32	chr15:72448800-72452400	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:72448800-72453000	Weak transcription	Fetal Intestine Small	intestine
34	chr15:72448800-72453000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:72448800-72453000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:72448800-72453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:72448800-72453200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:72448800-72453200	Weak transcription	Lung	lung
39	chr15:72448800-72453600	Weak transcription	Fetal Stomach	stomach
40	chr15:72448800-72453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:72448800-72453800	Weak transcription	Brain Angular Gyrus	brain
42	chr15:72448800-72454200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:72448800-72454400	Weak transcription	Fetal Brain Male	brain
44	chr15:72448800-72455800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:72448800-72456000	Weak transcription	Fetal Brain Female	brain
46	chr15:72448800-72459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:72448800-72460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:72448800-72462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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