Variant report

Variant	rs73397133
Chromosome Location	chr15:40075764-40075765
allele	A/G
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	ZNF384	chr15:40075498-40075806	GM12878	blood:	n/a	n/a
2	MXI1	chr15:40074115-40077221	SK-N-SH	brain:	n/a	chr15:40075015-40075030 chr15:40075017-40075032
3	POLR2A	chr15:40074714-40075921	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:40074290-40076223	PBDE	blood:	n/a	n/a
5	POLR2A	chr15:40074399-40076023	GM12891	blood:	n/a	n/a
6	MYC	chr15:40075581-40075781	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:40074342-40076610	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr15:40075629-40075996	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr15:40074908-40076351	K562	blood:	n/a	n/a
10	POLR2A	chr15:40074445-40075802	GM12878	blood:	n/a	n/a
11	HCFC1	chr15:40074147-40076109	Hela-S3	cervix:	n/a	n/a
12	SIN3A	chr15:40074445-40075982	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr15:40074497-40076808	IMR90	lung:	n/a	chr15:40075015-40075030 chr15:40075017-40075032
14	CHD2	chr15:40074458-40075850	Hela-S3	cervix:	n/a	chr15:40075051-40075060
15	CTCF	chr15:40075700-40075850	HEEpiC	esophagus:	n/a	n/a
16	MXI1	chr15:40074609-40075764	Hela-S3	cervix:	n/a	chr15:40075015-40075030 chr15:40075017-40075032
17	POLR2A	chr15:40075551-40075834	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:40074331-40076370	SK-N-SH	brain:	n/a	n/a
19	JUND	chr15:40074167-40076856	SK-N-SH	brain:	n/a	chr15:40074698-40074707
20	RCOR1	chr15:40074482-40075830	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr15:40075640-40075790	SK-N-SH_RA	brain:	n/a	n/a
22	RCOR1	chr15:40074461-40076049	K562	blood:	n/a	n/a
23	REST	chr15:40074173-40075999	H1-neurons	neurons:	n/a	chr15:40074763-40074776 chr15:40075089-40075102 chr15:40074705-40074714

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:

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

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

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1027232	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858148	0.81[ASN][1000 genomes]
rs12437837	0.81[ASN][1000 genomes]
rs12440567	0.85[ASN][1000 genomes]
rs2171312	0.85[ASN][1000 genomes]
rs2631717	0.82[ASN][1000 genomes]
rs28538495	0.85[ASN][1000 genomes]
rs28884199	0.85[ASN][1000 genomes]
rs28896916	0.85[ASN][1000 genomes]
rs4924387	0.81[ASN][1000 genomes]
rs4924388	0.85[ASN][1000 genomes]
rs4924392	0.90[ASN][1000 genomes]
rs58312028	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59434895	0.81[ASN][1000 genomes]
rs60431166	0.81[ASN][1000 genomes]
rs61695850	0.81[ASN][1000 genomes]
rs6492915	0.80[EUR][1000 genomes]
rs7165244	0.92[EUR][1000 genomes]
rs8026892	0.94[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40074000-40075800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:40074000-40075800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:40074000-40076400	Active TSS	A549	lung
4	chr15:40074000-40076600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:40074200-40075800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40074200-40075800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:40074200-40075800	Active TSS	Aorta	Aorta
8	chr15:40074200-40075800	Active TSS	Brain Germinal Matrix	brain
9	chr15:40074200-40075800	Active TSS	Ovary	ovary
10	chr15:40074200-40075800	Active TSS	Thymus	Thymus
11	chr15:40074200-40075800	Active TSS	GM12878-XiMat	blood
12	chr15:40074200-40075800	Active TSS	HSMM	muscle
13	chr15:40074200-40075800	Active TSS	NHLF	lung
14	chr15:40074200-40075800	Active TSS	Osteobl	bone
15	chr15:40074200-40076000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:40074200-40076000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40074200-40076000	Active TSS	Colonic Mucosa	Colon
18	chr15:40074200-40076000	Active TSS	Right Atrium	heart
19	chr15:40074200-40076200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:40074200-40076400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:40074200-40076400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:40074200-40076800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:40074400-40075800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:40074400-40075800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:40074400-40075800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr15:40074400-40075800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:40074400-40075800	Active TSS	Brain Hippocampus Middle	brain
28	chr15:40074400-40075800	Active TSS	Left Ventricle	heart
29	chr15:40074400-40075800	Active TSS	Psoas Muscle	Psoas
30	chr15:40074400-40075800	Active TSS	Right Ventricle	heart
31	chr15:40074400-40075800	Active TSS	K562	blood
32	chr15:40074400-40075800	Active TSS	NHDF-Ad	bronchial
33	chr15:40074400-40076000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:40074400-40076000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:40074400-40076000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:40074400-40076000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:40074400-40076000	Active TSS	Fetal Muscle Trunk	muscle
38	chr15:40074400-40076200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr15:40074400-40076400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr15:40074400-40076600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:40074400-40076600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:40074600-40075800	Active TSS	Esophagus	oesophagus
43	chr15:40074600-40075800	Active TSS	Gastric	stomach
44	chr15:40074600-40077200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr15:40074800-40075800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:40074800-40075800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:40075000-40076000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:40075200-40075800	Flanking Active TSS	Fetal Brain Male	brain
49	chr15:40075200-40075800	Bivalent/Poised TSS	HepG2	liver
50	chr15:40075200-40076000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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