Variant report

Variant	rs7714589
Chromosome Location	chr5:126114995-126114996
allele	C/T
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	chr5:126111057-126115293	GM12878	blood:	n/a	n/a
2	MAX	chr5:126111958-126115083	NB4	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
3	POLR2A	chr5:126111237-126115281	GM12891	blood:	n/a	n/a
4	IRF1	chr5:126113699-126115141	K562	blood:	n/a	chr5:126114190-126114204
5	POLR2A	chr5:126111543-126115014	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:126111809-126115016	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr5:126113725-126115270	GM12878	blood:	n/a	n/a
8	MAX	chr5:126112132-126114997	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
9	MAX	chr5:126111943-126115049	Hela-S3	cervix:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
10	MYC	chr5:126111988-126115066	NB4	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
11	STAT3	chr5:126114765-126115032	MCF10A-Er-Src	breast:	n/a	n/a
12	ATF2	chr5:126113688-126115068	GM12878	blood:	n/a	n/a
13	CHD1	chr5:126111695-126115194	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:126111685-126115061	K562	blood:	n/a	n/a
15	MYC	chr5:126114593-126115143	MCF10A-Er-Src	breast:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
16	POLR2A	chr5:126111708-126115315	GM12878	blood:	n/a	n/a
17	MYC	chr5:126111567-126115270	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
18	E2F4	chr5:126114923-126115213	MCF10A-Er-Src	breast:	n/a	n/a
19	JUN	chr5:126111923-126115163	K562	blood:	n/a	n/a
20	PML	chr5:126113597-126115251	K562	blood:	n/a	chr5:126114256-126114264
21	MXI1	chr5:126111581-126115138	IMR90	lung:	n/a	n/a
22	POLR2A	chr5:126111588-126115380	GM12892	blood:	n/a	n/a
23	MYC	chr5:126112071-126115009	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
24	JUND	chr5:126111941-126115276	K562	blood:	n/a	n/a
25	PML	chr5:126111162-126115127	GM12878	blood:	n/a	chr5:126114256-126114264
26	TEAD4	chr5:126113729-126115019	K562	blood:	n/a	n/a
27	TBL1XR1	chr5:126111876-126115004	GM12878	blood:	n/a	n/a
28	NR2F2	chr5:126113608-126115385	K562	blood:	n/a	n/a
29	POLR2A	chr5:126111937-126115031	Hela-S3	cervix:	n/a	n/a
30	IRF1	chr5:126113416-126115093	K562	blood:	n/a	chr5:126114190-126114204 chr5:126113594-126113608
31	POLR2A	chr5:126111181-126115016	GM12878	blood:	n/a	n/a
32	MYC	chr5:126112024-126115355	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
33	MXI1	chr5:126111915-126115052	Hela-S3	cervix:	n/a	n/a
34	ATF2	chr5:126113733-126115079	GM12878	blood:	n/a	n/a
35	CREB1	chr5:126111997-126115065	K562	blood:	n/a	n/a
36	ZC3H11A	chr5:126113880-126115027	K562	blood:	n/a	n/a
37	POLR2A	chr5:126111403-126115028	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr5:126111584-126115278	K562	blood:	n/a	n/a
39	STAT5A	chr5:126112757-126115023	GM12878	blood:	n/a	chr5:126114360-126114383 chr5:126114065-126114077
40	MXI1	chr5:126113937-126115152	K562	blood:	n/a	n/a
41	MXI1	chr5:126111617-126115232	SK-N-SH	brain:	n/a	n/a
42	MAX	chr5:126113956-126115099	A549	lung:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
43	MXI1	chr5:126111841-126115276	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:126111303-126115110	GM18951	blood:	n/a	n/a
45	TBL1XR1	chr5:126113799-126115117	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126110953..126112641-chr5:126114465..126116058,3	K562	blood:
2	chr5:126109563..126112452-chr5:126114638..126116357,2	K562	blood:
3	chr5:126058298..126059864-chr5:126113085..126115635,2	K562	blood:
4	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
5	chr5:126112758..126116358-chr5:126145679..126148817,3	K562	blood:
6	chr5:126021301..126023563-chr5:126114840..126116596,2	MCF-7	breast:
7	chr5:125990916..125992707-chr5:126114445..126117654,3	K562	blood:
8	chr5:126043269..126045941-chr5:126113391..126116296,2	K562	blood:
9	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
10	chr5:126112502..126115238-chr5:126364683..126367658,2	MCF-7	breast:
11	chr5:126112473..126115233-chr5:126364397..126368675,4	K562	blood:
12	chr5:126015192..126015876-chr5:126114611..126115166,2	MCF-7	breast:
13	chr5:125943485..125947339-chr5:126112518..126115430,4	K562	blood:

Variant related genes	Relation type
ENSG00000251072	TF binding region
ENSG00000173926	Chromatin interaction
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000252185	Chromatin interaction
ENSG00000164902	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17532839	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598428	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598867	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763156	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3805739	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55656009	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391696	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62391699	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62391701	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391704	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391730	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391731	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391738	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391742	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392862	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6874636	0.90[ASN][1000 genomes]
rs7732759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126111200-126115000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:126111200-126115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:126111200-126115800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:126111200-126115800	Active TSS	A549	lung
5	chr5:126111400-126115000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:126111400-126115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:126111400-126115200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr5:126111600-126115000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:126111600-126116200	Active TSS	Thymus	Thymus
12	chr5:126111600-126116600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:126111800-126115000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:126111800-126115000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:126111800-126116000	Active TSS	Fetal Kidney	kidney
16	chr5:126111800-126116400	Active TSS	GM12878-XiMat	blood
17	chr5:126112000-126115000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:126112200-126116200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:126113000-126117000	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr5:126113600-126115000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:126113600-126115000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:126113600-126115800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:126113800-126115200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:126113800-126115600	Active TSS	Fetal Brain Female	brain
25	chr5:126114000-126115400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:126114200-126115000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr5:126114200-126115000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr5:126114200-126115000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr5:126114200-126115000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:126114200-126115000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:126114200-126115000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:126114200-126115000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:126114200-126115000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr5:126114200-126115000	Flanking Active TSS	NHEK	skin
35	chr5:126114200-126115200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:126114200-126115200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr5:126114200-126115200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:126114200-126115200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:126114200-126115200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:126114200-126115200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr5:126114200-126115400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:126114200-126115400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:126114200-126116400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
44	chr5:126114400-126115000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:126114400-126115000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:126114400-126115000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:126114400-126115000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr5:126114400-126115000	Flanking Active TSS	Fetal Heart	heart
49	chr5:126114400-126115000	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr5:126114400-126115000	Flanking Active TSS	Fetal Muscle Leg	muscle

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