Variant report

Variant	rs34511502
Chromosome Location	chr15:72613423-72613424
allele	C/G
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	REST	chr15:72611572-72613580	H1-neurons	neurons:	n/a	chr15:72612329-72612339 chr15:72612336-72612349
2	MXI1	chr15:72611713-72613501	SK-N-SH	brain:	n/a	chr15:72612664-72612679
3	BATF	chr15:72613269-72613539	GM12878	blood:	n/a	chr15:72613433-72613444
4	JUN	chr15:72611813-72613524	K562	blood:	n/a	chr15:72612537-72612546 chr15:72612598-72612607

No.	Distal block	Cell Line	Cell type
1	chr15:72609440..72614186-chr15:72765313..72769259,6	MCF-7	breast:
2	chr15:72520807..72523133-chr15:72610343..72613586,3	MCF-7	breast:
3	chr15:72612273..72613953-chr15:72667924..72670021,2	K562	blood:

Variant related genes	Relation type
CELF6	TF binding region
ENSG00000273025	TF binding region
ENSG00000213614	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10518987	0.94[ASN][1000 genomes]
rs11632505	1.00[ASN][1000 genomes]
rs12324744	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[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	0.94[ASN][1000 genomes]
rs12907087	0.94[ASN][1000 genomes]
rs12907377	0.94[ASN][1000 genomes]
rs12907707	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908863	0.88[ASN][1000 genomes]
rs12908883	1.00[AMR][1000 genomes]
rs12909590	0.94[ASN][1000 genomes]
rs12910475	0.88[ASN][1000 genomes]
rs12911285	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	0.94[ASN][1000 genomes]
rs2288257	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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957751	0.82[ASN][1000 genomes]
rs2959905	0.83[AFR][1000 genomes]
rs2959916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959920	0.86[AFR][1000 genomes]
rs2959923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959928	0.86[AFR][1000 genomes]
rs2959929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959933	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959935	0.86[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]
rs34538801	0.91[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514603	0.81[AFR][1000 genomes]
rs35694406	0.94[ASN][1000 genomes]
rs36110969	0.94[ASN][1000 genomes]
rs3743227	0.94[ASN][1000 genomes]
rs3743228	0.94[ASN][1000 genomes]
rs3743229	0.94[ASN][1000 genomes]
rs3759901	0.94[ASN][1000 genomes]
rs3825949	0.83[ASN][1000 genomes]
rs4776592	0.89[ASN][1000 genomes]
rs4776593	0.89[ASN][1000 genomes]
rs4777501	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	0.91[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]
rs9806184	0.94[ASN][1000 genomes]
rs9806204	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72609800-72624800	Weak transcription	HepG2	liver
2	chr15:72612000-72613600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:72612600-72613600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:72612800-72618600	Weak transcription	Aorta	Aorta
5	chr15:72613000-72614000	Enhancers	Ovary	ovary
6	chr15:72613000-72618000	Weak transcription	Psoas Muscle	Psoas
7	chr15:72613000-72618400	Weak transcription	Left Ventricle	heart
8	chr15:72613000-72618600	Weak transcription	Lung	lung
9	chr15:72613000-72619200	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:72613000-72631600	Weak transcription	Right Atrium	heart
11	chr15:72613000-72636000	Weak transcription	Right Ventricle	heart
12	chr15:72613000-72636400	Weak transcription	Gastric	stomach
13	chr15:72613000-72637000	Weak transcription	Colonic Mucosa	Colon
14	chr15:72613200-72613600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:72613200-72614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:72613200-72614000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr15:72613200-72614000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:72613200-72614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:72613200-72615800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:72613200-72615800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:72613200-72616600	Weak transcription	Liver	Liver
22	chr15:72613200-72618400	Weak transcription	Adipose Nuclei	Adipose
23	chr15:72613200-72618400	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:72613200-72618600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:72613200-72618800	Weak transcription	Fetal Intestine Large	intestine
26	chr15:72613200-72619200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:72613200-72619200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:72613200-72619400	Weak transcription	Fetal Stomach	stomach
29	chr15:72613200-72630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:72613200-72630600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:72613200-72630800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:72613200-72631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:72613200-72633000	Weak transcription	Thymus	Thymus
34	chr15:72613200-72633600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:72613200-72634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:72613200-72635600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:72613200-72635800	Weak transcription	Pancreas	Pancrea
38	chr15:72613200-72636000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:72613200-72636200	Weak transcription	HSMMtube	muscle
40	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
41	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
42	chr15:72613400-72613600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:72613400-72613600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:72613400-72613600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:72613400-72613600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:72613400-72613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:72613400-72613800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:72613400-72613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:72613400-72613800	Enhancers	Brain Germinal Matrix	brain
50	chr15:72613400-72613800	Enhancers	Fetal Brain Female	brain

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