Variant report

Variant	rs74023417
Chromosome Location	chr15:74427670-74427671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74427374..74429740-chr15:74435764..74437591,2	MCF-7	breast:
2	chr15:74426280..74428473-chr15:74476788..74479441,2	MCF-7	breast:
3	chr11:62609061..62609654-chr15:74427494..74428407,2	Hela-S3	cervix:
4	chr15:74420017..74422419-chr15:74427026..74430364,3	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000248540	Chromatin interaction
ENSG00000167178	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16971703	1.00[EUR][1000 genomes]
rs58915746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7172035	1.00[AMR][1000 genomes]
rs73431469	1.00[AMR][1000 genomes]
rs73431471	1.00[AMR][1000 genomes]
rs73432359	1.00[AMR][1000 genomes]
rs74023411	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74023412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74023415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74023426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74023435	1.00[EUR][1000 genomes]
rs74023437	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1047564	chr15:74408836-74458181	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv827385	chr15:74419539-74429301	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74423000-74428000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr15:74424200-74428200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr15:74424600-74428400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr15:74424800-74428200	Bivalent Enhancer	Liver	Liver
5	chr15:74424800-74428200	Bivalent Enhancer	Placenta	Placenta
6	chr15:74425000-74427800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr15:74425000-74428000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:74425000-74429400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:74425400-74427800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:74425400-74427800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
11	chr15:74425400-74428200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr15:74426400-74427800	Enhancers	Pancreas	Pancrea
13	chr15:74426400-74428200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr15:74426400-74428200	Bivalent Enhancer	Fetal Lung	lung
15	chr15:74426400-74428200	Bivalent Enhancer	Spleen	Spleen
16	chr15:74426600-74428600	Enhancers	Fetal Heart	heart
17	chr15:74426600-74429200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:74426800-74427800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr15:74426800-74427800	Bivalent Enhancer	Left Ventricle	heart
20	chr15:74426800-74428000	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr15:74426800-74428000	Enhancers	Right Atrium	heart
22	chr15:74426800-74428200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr15:74426800-74428200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr15:74426800-74428200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr15:74426800-74428200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr15:74426800-74428400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr15:74426800-74428400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:74426800-74428600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:74426800-74429200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:74426800-74430000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr15:74427000-74427800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:74427000-74427800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr15:74427000-74427800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:74427000-74427800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:74427000-74427800	Bivalent Enhancer	Small Intestine	intestine
36	chr15:74427000-74428000	Bivalent Enhancer	NH-A	brain
37	chr15:74427000-74428200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:74427000-74428200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:74427000-74428200	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr15:74427000-74428200	Bivalent Enhancer	HUVEC	blood vessel
41	chr15:74427000-74428400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:74427000-74428400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr15:74427200-74427800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:74427200-74427800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr15:74427200-74427800	Enhancers	Gastric	stomach
46	chr15:74427200-74428000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:74427200-74428000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr15:74427200-74428200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:74427200-74428200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr15:74427400-74427800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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