Variant report

Variant	rs636992
Chromosome Location	chr15:45927304-45927305
allele	A/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45926848..45927354-chr9:139440161..139440841,2	HCT-116	colon:
2	chr15:45736069..45742318-chr15:45926037..45929619,6	MCF-7	breast:
3	chr15:45926526..45927370-chr15:91260476..91261019,2	Hela-S3	cervix:
4	chr15:45926716..45927538-chr3:169490885..169491684,2	Hela-S3	cervix:
5	chr15:45927181..45929961-chr15:45939240..45941307,2	MCF-7	breast:
6	chr11:67232200..67232767-chr15:45927162..45927679,2	Hela-S3	cervix:
7	chr1:144533680..144534341-chr15:45927018..45927807,2	Hela-S3	cervix:
8	chr15:45923721..45925487-chr15:45925745..45928411,3	MCF-7	breast:
9	chr15:45926600..45927530-chr17:43393928..43394568,2	Hela-S3	cervix:
10	chr15:45927252..45928181-chr2:70313986..70314551,2	Hela-S3	cervix:
11	chr15:45927045..45928027-chr3:23958538..23959122,2	Hela-S3	cervix:
12	chr15:45926989..45927548-chrX:153625673..153626604,2	Hela-S3	cervix:
13	chr1:190088571..190089071-chr15:45927030..45927668,2	Hela-S3	cervix:
14	chr15:45723625..45725327-chr15:45926093..45928681,2	MCF-7	breast:
15	chr15:45692929..45695674-chr15:45926950..45929580,2	MCF-7	breast:
16	chr15:45926667..45927553-chr5:149736913..149737832,2	Hela-S3	cervix:
17	chr15:45877908..45881944-chr15:45926466..45928753,3	MCF-7	breast:
18	chr15:45927082..45927744-chr20:42085983..42086651,2	Hela-S3	cervix:
19	chr15:45927063..45929876-chr15:45998234..45999862,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179818	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000211519	Chromatin interaction
ENSG00000085274	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000070814	Chromatin interaction
ENSG00000006062	Chromatin interaction
ENSG00000237886	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000148400	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000197299	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000265181	Chromatin interaction
ENSG00000147403	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1984773	1.00[AMR][1000 genomes]
rs2670810	1.00[AMR][1000 genomes]
rs2733245	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs353095	0.82[YRI][hapmap]
rs594516	0.82[YRI][hapmap]
rs612451	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs625466	0.82[YRI][hapmap]
rs629986	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45926400-45928400	Active TSS	Brain Anterior Caudate	brain
2	chr15:45926400-45928400	Active TSS	Fetal Intestine Large	intestine
3	chr15:45926400-45928600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:45926400-45928600	Active TSS	A549	lung
5	chr15:45926600-45927400	Active TSS	Brain Hippocampus Middle	brain
6	chr15:45926600-45927600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:45926600-45927600	Active TSS	HSMM	muscle
8	chr15:45926600-45927600	Active TSS	K562	blood
9	chr15:45926600-45927800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:45926600-45927800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45926600-45927800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:45926600-45927800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:45926600-45927800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:45926600-45927800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:45926600-45927800	Active TSS	Primary T cells from cord blood	blood
16	chr15:45926600-45927800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr15:45926600-45927800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:45926600-45927800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:45926600-45928000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr15:45926600-45928000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:45926600-45928000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:45926600-45928000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr15:45926600-45928000	Active TSS	Left Ventricle	heart
24	chr15:45926600-45928000	Active TSS	Right Atrium	heart
25	chr15:45926600-45928000	Bivalent/Poised TSS	HepG2	liver
26	chr15:45926600-45928200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:45926600-45928200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr15:45926600-45928200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr15:45926600-45928200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:45926600-45928200	Active TSS	Brain Substantia Nigra	brain
31	chr15:45926600-45928200	Flanking Active TSS	Placenta	Placenta
32	chr15:45926600-45928200	Active TSS	Gastric	stomach
33	chr15:45926600-45928200	Active TSS	Lung	lung
34	chr15:45926600-45928200	Active TSS	Spleen	Spleen
35	chr15:45926600-45928400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr15:45926600-45928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:45926600-45928400	Active TSS	Aorta	Aorta
38	chr15:45926600-45928400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr15:45926600-45928400	Active TSS	Esophagus	oesophagus
40	chr15:45926600-45928400	Active TSS	Pancreas	Pancrea
41	chr15:45926600-45928400	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr15:45926600-45928600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:45926600-45928800	Active TSS	Small Intestine	intestine
44	chr15:45926600-45929200	Active TSS	Colonic Mucosa	Colon
45	chr15:45926600-45929200	Active TSS	Psoas Muscle	Psoas
46	chr15:45926800-45927400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr15:45926800-45927400	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr15:45926800-45927400	Active TSS	HSMMtube	muscle
49	chr15:45926800-45927600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:45926800-45927600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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