Variant report

Variant	rs4362334
Chromosome Location	chr15:57180694-57180695
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57176057..57187872-chr15:57206946..57217524,36	K562	blood:
2	chr15:57178056..57181492-chr15:57182204..57185235,4	MCF-7	breast:
3	chr15:57179828..57184056-chr15:57314164..57317264,3	K562	blood:
4	chr15:57161863..57163537-chr15:57180536..57183003,2	K562	blood:
5	chr15:57178804..57180987-chr15:57202358..57204710,2	MCF-7	breast:
6	chr15:57178290..57182491-chr15:57208958..57213003,14	K562	blood:
7	chr15:57179137..57180957-chr15:57186379..57188550,2	MCF-7	breast:
8	chr15:57178055..57182351-chr15:57208260..57213543,21	MCF-7	breast:
9	chr15:57178054..57181022-chr15:57209016..57212878,5	MCF-7	breast:
10	chr15:57179564..57182313-chr15:57232225..57234178,2	K562	blood:
11	chr15:57178197..57180890-chr6:86114463..86117112,2	MCF-7	breast:
12	chr15:57179607..57181296-chr15:57182021..57184256,2	MCF-7	breast:
13	chr15:57173403..57176748-chr15:57177855..57180719,3	MCF-7	breast:
14	chr15:57178897..57180716-chr15:57201391..57203977,3	K562	blood:
15	chr15:57023926..57025513-chr15:57178934..57180893,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11071298	0.82[EUR][1000 genomes]
rs12437635	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes]
rs12438377	0.88[AMR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12439697	0.87[AMR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12440725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441185	0.88[EUR][1000 genomes]
rs12441200	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12441769	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12441792	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442069	0.88[AMR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12443178	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1364541	0.82[AMR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1631905	0.81[AMR][1000 genomes]
rs1647386	0.87[AMR][1000 genomes]
rs1647391	0.84[AMR][1000 genomes]
rs16977123	0.88[AMR][1000 genomes]
rs17238880	1.00[AFR][1000 genomes]
rs17238894	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17238901	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes]
rs17819592	1.00[AFR][1000 genomes]
rs17819616	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes]
rs4287503	0.82[AMR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs966807	1.00[AFR][1000 genomes];0.88[AMR][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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers 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
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr15:57178600-57181200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:57179800-57180800	Flanking Active TSS	Dnd41	blood
3	chr15:57179800-57180800	Flanking Active TSS	GM12878-XiMat	blood
4	chr15:57179800-57181000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:57179800-57181000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr15:57179800-57181000	Flanking Active TSS	Fetal Lung	lung
7	chr15:57179800-57181000	Flanking Active TSS	K562	blood
8	chr15:57180000-57180800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:57180000-57181000	Enhancers	Spleen	Spleen
10	chr15:57180000-57181000	Flanking Active TSS	Hela-S3	cervix
11	chr15:57180200-57180800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:57180200-57180800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr15:57180200-57180800	Enhancers	Placenta	Placenta
14	chr15:57180200-57180800	Enhancers	Stomach Mucosa	stomach
15	chr15:57180200-57181000	Enhancers	Primary B cells from peripheral blood	blood
16	chr15:57180200-57181000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:57180200-57181000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr15:57180200-57181000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:57180200-57181000	Flanking Active TSS	HepG2	liver
20	chr15:57180200-57185000	Weak transcription	Left Ventricle	heart
21	chr15:57180200-57208000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:57180400-57180800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:57180400-57180800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:57180400-57180800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr15:57180400-57180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:57180400-57180800	Enhancers	Fetal Brain Male	brain
27	chr15:57180400-57180800	Enhancers	Fetal Muscle Leg	muscle
28	chr15:57180400-57180800	Enhancers	Lung	lung
29	chr15:57180400-57181000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:57180400-57181000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:57180400-57181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr15:57180400-57181000	Enhancers	Brain Anterior Caudate	brain
33	chr15:57180400-57181000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr15:57180400-57181000	Enhancers	Duodenum Mucosa	Duodenum
35	chr15:57180400-57181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:57180400-57181000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr15:57180400-57181000	Enhancers	Rectal Smooth Muscle	rectum
38	chr15:57180400-57181000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr15:57180400-57181000	Enhancers	HMEC	breast
40	chr15:57180400-57181000	Enhancers	HUVEC	blood vessel
41	chr15:57180400-57181000	Enhancers	NH-A	brain
42	chr15:57180400-57181200	Enhancers	Primary T cells from cord blood	blood
43	chr15:57180400-57181200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:57180400-57181200	Enhancers	Brain Hippocampus Middle	brain
45	chr15:57180400-57181200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:57180400-57181200	Enhancers	Brain Substantia Nigra	brain
47	chr15:57180400-57181200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:57180400-57181200	Enhancers	Fetal Heart	heart
49	chr15:57180400-57181200	Enhancers	Fetal Intestine Small	intestine
50	chr15:57180400-57181200	Flanking Active TSS	Thymus	Thymus

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