Variant report

Variant	rs66496275
Chromosome Location	chr15:40076015-40076016
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr15:40075778-40076205	K562	blood:	n/a	n/a
2	MXI1	chr15:40074115-40077221	SK-N-SH	brain:	n/a	chr15:40075015-40075030 chr15:40075017-40075032
3	POLR2A	chr15:40074290-40076223	PBDE	blood:	n/a	n/a
4	POLR2A	chr15:40074399-40076023	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:40074342-40076610	HUVEC	blood vessel:	n/a	n/a
6	EP300	chr15:40074908-40076351	K562	blood:	n/a	n/a
7	HCFC1	chr15:40074147-40076109	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr15:40074497-40076808	IMR90	lung:	n/a	chr15:40075015-40075030 chr15:40075017-40075032
9	POLR2A	chr15:40074331-40076370	SK-N-SH	brain:	n/a	n/a
10	JUND	chr15:40074167-40076856	SK-N-SH	brain:	n/a	chr15:40074698-40074707
11	RCOR1	chr15:40074461-40076049	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39873273..39875900-chr15:40075314..40077183,3	MCF-7	breast:
2	chr15:40075150..40077007-chr15:40093645..40095814,2	MCF-7	breast:
3	chr15:40071940..40073797-chr15:40075323..40078036,2	MCF-7	breast:
4	chr15:39877336..39879438-chr15:40075503..40079395,4	MCF-7	breast:
5	chr15:40074208..40076102-chr15:40329673..40331654,2	K562	blood:
6	chr15:40074957..40076542-chr15:40453095..40454705,2	K562	blood:
7	chr15:39878404..39880564-chr15:40074822..40077432,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-4	chr15:40074772-40077818	ENSG00000261136.1
2	lnc-EIF2AK4-4	chr15:40075108-40077815	NONHSAT041769

No data

Variant related genes	Relation type
FSIP1	TF binding region
ENSG00000137801	Chromatin interaction
ENSG00000156970	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1166718	0.91[ASN][1000 genomes]
rs1166722	0.93[ASN][1000 genomes]
rs1166723	0.91[ASN][1000 genomes]
rs12592687	0.86[ASN][1000 genomes]
rs1688087	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2576929	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2576932	0.91[ASN][1000 genomes]
rs2576933	0.91[ASN][1000 genomes]
rs2631714	0.92[ASN][1000 genomes]
rs2638009	0.90[ASN][1000 genomes]
rs34943556	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4115216	0.82[ASN][1000 genomes]
rs4924389	0.93[ASN][1000 genomes]
rs4924391	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs592172	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs594863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs606927	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs620407	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492919	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670748	0.89[ASN][1000 genomes]
rs7165244	0.90[ASN][1000 genomes]
rs7179417	0.83[ASN][1000 genomes]
rs8031241	0.81[ASN][1000 genomes]
rs8033485	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40074000-40076400	Active TSS	A549	lung
2	chr15:40074000-40076600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:40074200-40076200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:40074200-40076400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:40074200-40076400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:40074200-40076800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:40074400-40076200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:40074400-40076400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:40074400-40076600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:40074400-40076600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:40074600-40077200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:40075200-40076200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr15:40075200-40076400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:40075200-40076600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:40075400-40076200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:40075400-40076200	Flanking Active TSS	HSMMtube	muscle
17	chr15:40075400-40076400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr15:40075400-40076400	Flanking Active TSS	Dnd41	blood
19	chr15:40075400-40076800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr15:40075600-40076200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr15:40075600-40076200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:40075600-40076200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:40075600-40076200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr15:40075600-40076200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr15:40075600-40076200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr15:40075600-40076200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr15:40075600-40076200	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr15:40075600-40076200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr15:40075600-40076400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40075600-40076400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:40075600-40076400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr15:40075600-40076400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:40075600-40076400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr15:40075600-40076400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr15:40075600-40076400	Flanking Active TSS	Hela-S3	cervix
36	chr15:40075600-40076600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:40075600-40076600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:40075600-40076600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:40075600-40076600	Flanking Active TSS	HMEC	breast
40	chr15:40075600-40076600	Flanking Active TSS	NHEK	skin
41	chr15:40075600-40076800	Flanking Active TSS	HUVEC	blood vessel
42	chr15:40075600-40077200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:40075600-40078400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:40075800-40076200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:40075800-40076200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:40075800-40076200	Flanking Active TSS	Fetal Kidney	kidney
47	chr15:40075800-40076200	Weak transcription	Gastric	stomach
48	chr15:40075800-40076200	Enhancers	Pancreas	Pancrea
49	chr15:40075800-40076200	Enhancers	Right Ventricle	heart
50	chr15:40075800-40076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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