Variant report

Variant	rs72777622
Chromosome Location	chr5:96518433-96518434
allele	C/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	POLR2A	chr5:96517775-96519865	IMR90	lung:	n/a	n/a
2	POLR2A	chr5:96518412-96519746	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr5:96518017-96518456	K562	blood:	n/a	n/a
4	SIN3AK20	chr5:96518362-96519481	K562	blood:	n/a	n/a
5	POLR2A	chr5:96518274-96519794	PFSK-1	brain:	n/a	n/a
6	MTA3	chr5:96518406-96519986	GM12878	blood:	n/a	n/a
7	REST	chr5:96518200-96520015	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr5:96518409-96519829	GM12878	blood:	n/a	n/a
9	TBP	chr5:96518350-96519718	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr5:96518207-96519799	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:96518399-96519821	K562	blood:	n/a	n/a
12	SIN3A	chr5:96518245-96519652	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:96518300-96519775	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr5:96518317-96519919	U87	brain:	n/a	n/a
15	CUX1	chr5:96518093-96519824	K562	blood:	n/a	n/a
16	TAF1	chr5:96518413-96519748	A549	lung:	n/a	n/a
17	FOS	chr5:96517173-96518467	MCF10A-Er-Src	breast:	n/a	chr5:96517304-96517314 chr5:96517304-96517314 chr5:96517733-96517742
18	NRF1	chr5:96517862-96519926	SK-N-SH	brain:	n/a	chr5:96518997-96519006 chr5:96519507-96519521 chr5:96519417-96519428 chr5:96519510-96519524 chr5:96519510-96519521 chr5:96518997-96519011 chr5:96519463-96519477 chr5:96519415-96519429 chr5:96518997-96519008
19	MXI1	chr5:96517903-96520065	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr5:96518359-96519698	K562	blood:	n/a	n/a
21	POLR2A	chr5:96518105-96519842	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:96518420-96519824	HCT-116	colon:	n/a	n/a
23	POLR2A	chr5:96518235-96519919	U87	brain:	n/a	n/a
24	ARID3A	chr5:96517984-96519784	HepG2	liver:	n/a	n/a
25	MAX	chr5:96518376-96520025	HCT-116	colon:	n/a	n/a
26	POLR2A	chr5:96518320-96519874	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr5:96518385-96519790	K562	blood:	n/a	n/a
28	POLR2A	chr5:96518397-96519788	K562	blood:	n/a	n/a
29	MYC	chr5:96518430-96519941	K562	blood:	n/a	n/a
30	MXI1	chr5:96518281-96519838	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96517799..96519630-chr9:91924359..91927202,2	MCF-7	breast:
2	chr5:96517922..96519748-chr5:96562831..96564407,2	MCF-7	breast:
3	chr5:96508014..96513294-chr5:96513654..96520413,9	K562	blood:
4	chr5:96517103..96519459-chr5:98107837..98111064,3	MCF-7	breast:
5	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
6	chr5:96142588..96144739-chr5:96517628..96519299,2	MCF-7	breast:
7	chr5:96517585..96519769-chr5:96537536..96540052,2	MCF-7	breast:
8	chr5:96269896..96271438-chr5:96517931..96519494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251513	TF binding region
ENSG00000123975	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000248758	Chromatin interaction
ENSG00000265112	Chromatin interaction
ENSG00000246763	Chromatin interaction
ENSG00000174136	Chromatin interaction
ENSG00000251054	Chromatin interaction
ENSG00000206698	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10072369	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12515176	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1363943	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216709	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2544773	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316183	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316184	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316185	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs316186	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316191	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316192	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316193	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316194	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316196	0.87[AMR][1000 genomes]
rs316197	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs316200	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs316215	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35824066	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3906410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs43497	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers 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	15 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	chr5:96514600-96518600	Weak transcription	Spleen	Spleen
2	chr5:96516600-96519600	Active TSS	GM12878-XiMat	blood
3	chr5:96516600-96520200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:96517200-96519600	Active TSS	NHLF	lung
5	chr5:96517200-96519800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:96517200-96520000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:96517200-96520200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:96517400-96518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:96517400-96518600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:96517400-96519600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:96517400-96519600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:96517400-96519800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:96517400-96519800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr5:96517400-96519800	Active TSS	Gastric	stomach
15	chr5:96517400-96520000	Active TSS	Aorta	Aorta
16	chr5:96517400-96520000	Active TSS	Psoas Muscle	Psoas
17	chr5:96517400-96520000	Active TSS	HSMMtube	muscle
18	chr5:96517600-96519600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:96517600-96519600	Active TSS	HSMM	muscle
20	chr5:96517600-96519800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:96517600-96519800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:96517600-96519800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:96517600-96519800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:96517600-96519800	Active TSS	Right Atrium	heart
25	chr5:96517600-96520000	Active TSS	Ovary	ovary
26	chr5:96517600-96520000	Active TSS	Right Ventricle	heart
27	chr5:96517600-96520000	Active TSS	NHDF-Ad	bronchial
28	chr5:96517800-96519400	Active TSS	Primary T cells fromperipheralblood	blood
29	chr5:96517800-96519600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:96517800-96519600	Active TSS	Fetal Intestine Large	intestine
31	chr5:96517800-96519600	Active TSS	Fetal Muscle Leg	muscle
32	chr5:96517800-96519800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:96517800-96519800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr5:96517800-96520000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:96518000-96518600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:96518000-96518600	Active TSS	HepG2	liver
37	chr5:96518000-96518800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr5:96518000-96519400	Active TSS	Fetal Muscle Trunk	muscle
39	chr5:96518000-96519600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:96518000-96519600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:96518000-96519600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:96518000-96519600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:96518000-96519600	Active TSS	Fetal Brain Male	brain
44	chr5:96518000-96519600	Active TSS	A549	lung
45	chr5:96518000-96519800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr5:96518000-96519800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:96518000-96519800	Active TSS	Left Ventricle	heart
48	chr5:96518000-96519800	Active TSS	Lung	lung
49	chr5:96518200-96518600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr5:96518200-96518600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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