Variant report

Variant	rs41553712
Chromosome Location	chr15:74657837-74657838
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45196380..45197273-chr15:74657681..74658572,2	Hela-S3	cervix:
2	chr15:74656941..74659751-chr15:74906408..74907911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179335	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17515476	1.00[ASN][1000 genomes]
rs3809542	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs41553612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41563614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766734	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56308802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59984854	0.84[AFR][1000 genomes]
rs60226645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60852398	0.81[AFR][1000 genomes]
rs7163952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74023479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74023491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74023494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74023496	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74023499	0.84[AFR][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	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv904351	chr15:74638965-74697084	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv984091	chr15:74640375-74659005	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv18862	chr15:74642778-74659579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74657000-74658000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
2	chr15:74657000-74658000	Flanking Active TSS	Hela-S3	cervix
3	chr15:74657000-74658200	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr15:74657400-74658800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:74657400-74658800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:74657600-74658000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr15:74657600-74658000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:74657600-74658000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:74657600-74658000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr15:74657600-74658000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr15:74657600-74658000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr15:74657600-74658000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:74657600-74658000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:74657600-74658000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:74657600-74658000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:74657600-74658000	Flanking Active TSS	Ovary	ovary
17	chr15:74657600-74658000	Active TSS	Pancreas	Pancrea
18	chr15:74657600-74658000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr15:74657600-74658200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr15:74657600-74658200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:74657600-74658200	Flanking Active TSS	Osteobl	bone
22	chr15:74657600-74658400	Flanking Active TSS	Liver	Liver
23	chr15:74657600-74658400	Flanking Active TSS	Placenta	Placenta
24	chr15:74657600-74658600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:74657600-74658600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:74657600-74658600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr15:74657600-74658600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr15:74657600-74658800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:74657600-74658800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr15:74657600-74658800	Active TSS	Esophagus	oesophagus
31	chr15:74657600-74658800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr15:74657600-74660200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr15:74657800-74658000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:74657800-74658000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:74657800-74658000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:74657800-74658000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:74657800-74658000	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr15:74657800-74658000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr15:74657800-74658000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr15:74657800-74658000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr15:74657800-74658000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
42	chr15:74657800-74658000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr15:74657800-74658000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:74657800-74658000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:74657800-74658000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:74657800-74658000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:74657800-74658000	Active TSS	Brain Angular Gyrus	brain
48	chr15:74657800-74658000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:74657800-74658000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
50	chr15:74657800-74658000	Bivalent Enhancer	Fetal Brain Female	brain

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