Variant report

Variant	rs2959916
Chromosome Location	chr15:72616192-72616193
allele	C/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	SETDB1	chr15:72616153-72616591	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72615312..72618236-chr15:72766595..72769031,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273025	TF binding region
CELF6	TF binding region
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10220850	1.00[CEU][hapmap]
rs10518987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11632505	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12324744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12899442	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12902983	1.00[AMR][1000 genomes]
rs12904334	1.00[AMR][1000 genomes]
rs12904378	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12904667	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12906356	0.94[ASN][1000 genomes]
rs12906612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12906942	1.00[CEU][hapmap]
rs12907087	0.94[ASN][1000 genomes]
rs12907377	0.94[ASN][1000 genomes]
rs12907707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908863	0.88[ASN][1000 genomes]
rs12908883	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12909590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12911285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12914269	0.94[ASN][1000 genomes]
rs12914312	0.88[ASN][1000 genomes]
rs12914829	1.00[AMR][1000 genomes]
rs12916039	0.88[ASN][1000 genomes]
rs12916226	0.94[ASN][1000 genomes]
rs12916298	0.88[ASN][1000 genomes]
rs12917402	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2288257	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28573838	0.82[EUR][1000 genomes]
rs2912203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912211	0.83[YRI][hapmap]
rs2912212	0.84[YRI][hapmap]
rs2912215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912218	0.80[YRI][hapmap]
rs2912221	1.00[CEU][hapmap]
rs2912222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912223	1.00[CEU][hapmap]
rs2912224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959905	0.88[AFR][1000 genomes]
rs2959917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959920	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2959923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959925	1.00[CEU][hapmap]
rs2959926	1.00[CEU][hapmap]
rs2959927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959928	0.91[AFR][1000 genomes]
rs2959929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959934	0.84[AFR][1000 genomes]
rs2959935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959940	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34023258	0.88[ASN][1000 genomes]
rs34115124	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211376	1.00[ASN][1000 genomes]
rs34294127	0.88[ASN][1000 genomes]
rs34346715	0.94[ASN][1000 genomes]
rs34362323	0.88[ASN][1000 genomes]
rs34382909	0.94[ASN][1000 genomes]
rs34505994	0.88[ASN][1000 genomes]
rs34511502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34538801	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34607939	1.00[AMR][1000 genomes]
rs34658339	0.94[ASN][1000 genomes]
rs34677662	1.00[ASN][1000 genomes]
rs34694253	0.88[ASN][1000 genomes]
rs34705283	0.88[ASN][1000 genomes]
rs34789424	0.88[ASN][1000 genomes]
rs34815962	0.94[ASN][1000 genomes]
rs35071085	0.88[ASN][1000 genomes]
rs35104697	0.94[ASN][1000 genomes]
rs35202897	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35285520	0.94[ASN][1000 genomes]
rs35362359	0.88[ASN][1000 genomes]
rs35378070	0.94[ASN][1000 genomes]
rs35457238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514603	0.86[AFR][1000 genomes]
rs35694406	0.94[ASN][1000 genomes]
rs36110969	0.94[ASN][1000 genomes]
rs3743227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3743228	0.94[ASN][1000 genomes]
rs3743229	0.94[ASN][1000 genomes]
rs3759901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3825949	0.83[ASN][1000 genomes]
rs4776592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4776593	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4777501	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs57420281	0.94[ASN][1000 genomes]
rs57692836	0.94[ASN][1000 genomes]
rs58352854	0.94[ASN][1000 genomes]
rs66608810	0.94[ASN][1000 genomes]
rs67195650	0.94[ASN][1000 genomes]
rs71395061	0.88[ASN][1000 genomes]
rs71395066	0.94[ASN][1000 genomes]
rs71395068	0.94[ASN][1000 genomes]
rs71395070	0.94[ASN][1000 genomes]
rs71395074	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397231	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397232	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397233	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397236	1.00[AMR][1000 genomes]
rs71411063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169150	0.94[ASN][1000 genomes]
rs7174264	0.83[ASN][1000 genomes]
rs73438446	0.94[ASN][1000 genomes]
rs8192359	0.94[ASN][1000 genomes]
rs8192387	0.94[ASN][1000 genomes]
rs8192397	0.94[ASN][1000 genomes]
rs9672916	1.00[CEU][hapmap]
rs9806184	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs9806204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72609800-72624800	Weak transcription	HepG2	liver
2	chr15:72612800-72618600	Weak transcription	Aorta	Aorta
3	chr15:72613000-72618000	Weak transcription	Psoas Muscle	Psoas
4	chr15:72613000-72618400	Weak transcription	Left Ventricle	heart
5	chr15:72613000-72618600	Weak transcription	Lung	lung
6	chr15:72613000-72619200	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:72613000-72631600	Weak transcription	Right Atrium	heart
8	chr15:72613000-72636000	Weak transcription	Right Ventricle	heart
9	chr15:72613000-72636400	Weak transcription	Gastric	stomach
10	chr15:72613000-72637000	Weak transcription	Colonic Mucosa	Colon
11	chr15:72613200-72616600	Weak transcription	Liver	Liver
12	chr15:72613200-72618400	Weak transcription	Adipose Nuclei	Adipose
13	chr15:72613200-72618400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:72613200-72618600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr15:72613200-72618800	Weak transcription	Fetal Intestine Large	intestine
16	chr15:72613200-72619200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:72613200-72619200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:72613200-72619400	Weak transcription	Fetal Stomach	stomach
19	chr15:72613200-72630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:72613200-72630600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:72613200-72630800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:72613200-72631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:72613200-72633000	Weak transcription	Thymus	Thymus
24	chr15:72613200-72633600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:72613200-72634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:72613200-72635600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:72613200-72635800	Weak transcription	Pancreas	Pancrea
28	chr15:72613200-72636000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:72613200-72636200	Weak transcription	HSMMtube	muscle
30	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
31	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
32	chr15:72613400-72616200	Weak transcription	Fetal Lung	lung
33	chr15:72613400-72616400	Weak transcription	Primary B cells from cord blood	blood
34	chr15:72613400-72618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:72613400-72618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:72613400-72618400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:72613400-72618400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:72613400-72618400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:72613400-72618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:72613400-72619200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:72613400-72619200	Weak transcription	Placenta	Placenta
42	chr15:72613400-72620600	Weak transcription	Small Intestine	intestine
43	chr15:72613400-72623000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:72613400-72623600	Weak transcription	NHLF	lung
45	chr15:72613400-72627400	Weak transcription	NHDF-Ad	bronchial
46	chr15:72613400-72629200	Weak transcription	Brain Anterior Caudate	brain
47	chr15:72613400-72630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:72613400-72630000	Weak transcription	Brain Angular Gyrus	brain
49	chr15:72613400-72630200	Weak transcription	Fetal Brain Male	brain
50	chr15:72613400-72631000	Weak transcription	Hela-S3	cervix

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