Variant report

Variant	rs8035146
Chromosome Location	chr15:52454773-52454774
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	CEBPB	chr15:52454475-52454814	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52453475..52455065-chr15:52470814..52473297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206995	TF binding region
ENSG00000069966	Chromatin interaction
ENSG00000259577	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10400852	1.00[EUR][1000 genomes]
rs16953085	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964735	1.00[EUR][1000 genomes]
rs16964737	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964750	1.00[EUR][1000 genomes]
rs16964770	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2231296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28656256	1.00[EUR][1000 genomes]
rs28663157	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41494446	1.00[EUR][1000 genomes]
rs59195841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59289747	1.00[EUR][1000 genomes]
rs60397096	1.00[EUR][1000 genomes]
rs7162885	0.81[AFR][1000 genomes]
rs7163133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165157	1.00[EUR][1000 genomes]
rs7165527	1.00[EUR][1000 genomes]
rs7165708	1.00[EUR][1000 genomes]
rs7167133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171700	1.00[EUR][1000 genomes]
rs7172939	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178038	1.00[EUR][1000 genomes]
rs730945	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402803	1.00[EUR][1000 genomes]
rs73402824	1.00[EUR][1000 genomes]
rs73402826	1.00[EUR][1000 genomes]
rs73402833	1.00[EUR][1000 genomes]
rs73402839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402857	0.87[AFR][1000 genomes]
rs73402859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402879	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404813	1.00[EUR][1000 genomes]
rs8023921	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024311	1.00[EUR][1000 genomes]
rs8024767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040458	1.00[EUR][1000 genomes]
rs8041042	1.00[EUR][1000 genomes]
rs8041128	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041233	1.00[EUR][1000 genomes]
rs8041355	1.00[EUR][1000 genomes]
rs8041504	1.00[EUR][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	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1047647	chr15:52425879-52469181	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52422600-52457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:52423000-52458200	Weak transcription	Dnd41	blood
3	chr15:52429800-52470200	Weak transcription	Fetal Brain Male	brain
4	chr15:52430200-52457800	Weak transcription	Fetal Intestine Large	intestine
5	chr15:52432200-52455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:52432200-52455200	Weak transcription	Colonic Mucosa	Colon
7	chr15:52436800-52457200	Weak transcription	GM12878-XiMat	blood
8	chr15:52437200-52456800	Weak transcription	HSMM	muscle
9	chr15:52437800-52463600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:52438000-52455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:52439200-52463600	Weak transcription	NHEK	skin
12	chr15:52439600-52454800	Weak transcription	NHDF-Ad	bronchial
13	chr15:52441000-52457400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:52442000-52455200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:52442000-52463600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:52442000-52463600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:52442200-52454800	Weak transcription	Fetal Intestine Small	intestine
18	chr15:52442200-52455800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:52442200-52470400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:52442200-52471000	Weak transcription	Brain Substantia Nigra	brain
21	chr15:52442200-52471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:52442400-52457200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:52442400-52457200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:52442400-52457800	Weak transcription	Adipose Nuclei	Adipose
25	chr15:52442600-52470000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:52442600-52470400	Weak transcription	HMEC	breast
27	chr15:52443000-52470800	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:52443400-52455400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:52443800-52455200	Weak transcription	Right Ventricle	heart
30	chr15:52443800-52455400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:52443800-52456000	Weak transcription	Fetal Lung	lung
32	chr15:52443800-52457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:52443800-52463600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:52444000-52455200	Weak transcription	Brain Anterior Caudate	brain
35	chr15:52444000-52455800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:52444000-52457200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:52444000-52457400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:52444000-52457800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:52444000-52458000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:52444200-52455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:52445600-52455200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:52445600-52455600	Weak transcription	Lung	lung
43	chr15:52445600-52463400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:52445600-52463600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:52445600-52471000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:52446000-52455400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:52447400-52460200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:52447400-52471000	Weak transcription	Right Atrium	heart
49	chr15:52447600-52463000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:52448000-52459800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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