Variant report

Variant	rs4725386
Chromosome Location	chr7:150660239-150660240
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	CTCF	chr7:150659789-150660506	K562	blood:	n/a	chr7:150660157-150660170
2	CTCF	chr7:150660140-150660290	AG10803	skin:	n/a	chr7:150660157-150660170
3	CTCF	chr7:150660023-150660452	GM12878	blood:	n/a	chr7:150660157-150660170
4	CTCF	chr7:150660104-150660367	Hela-S3	cervix:	n/a	chr7:150660157-150660170
5	CTCF	chr7:150660113-150660366	GM13976	blood:	n/a	chr7:150660157-150660170
6	CTCF	chr7:150660140-150660290	HPF	lung:	n/a	chr7:150660157-150660170
7	CTCF	chr7:150660140-150660290	MCF-7	breast:	n/a	chr7:150660157-150660170
8	CTCF	chr7:150660121-150660410	A549	lung:	n/a	chr7:150660157-150660170
9	RAD21	chr7:150659901-150660632	A549	lung:	n/a	chr7:150660201-150660215 chr7:150660200-150660214 chr7:150660157-150660171
10	EP300	chr7:150658917-150660334	K562	blood:	n/a	chr7:150660173-150660189
11	ELF1	chr7:150660036-150660363	K562	blood:	n/a	n/a
12	CTCF	chr7:150660140-150660290	HPAF	blood vessel:	n/a	chr7:150660157-150660170
13	RAD21	chr7:150658658-150664101	SK-N-SH	brain:	n/a	chr7:150661143-150661156 chr7:150662524-150662536 chr7:150661907-150661920 chr7:150659206-150659216 chr7:150663286-150663296 chr7:150660201-150660215 chr7:150659204-150659217 chr7:150661874-150661884 chr7:150659213-150659226 chr7:150663247-150663259 chr7:150658812-150658821 chr7:150660200-150660214 chr7:150661972-150661986 chr7:150663043-150663062 chr7:150662061-150662071 chr7:150663281-150663300 chr7:150660157-150660171
14	CTCF	chr7:150660113-150660375	HepG2	liver:	n/a	chr7:150660157-150660170
15	CHD2	chr7:150660022-150660294	K562	blood:	n/a	n/a
16	POLR2A	chr7:150660169-150660257	K562	blood:	n/a	n/a
17	CTCF	chr7:150660160-150660310	RPTEC	kidney:	n/a	n/a
18	CTCF	chr7:150660160-150660310	HRE	kidney:	n/a	n/a
19	CTCF	chr7:150660091-150660396	GM19239	blood:	n/a	chr7:150660157-150660170
20	RAD21	chr7:150660027-150660457	HepG2	liver:	n/a	chr7:150660201-150660215 chr7:150660200-150660214 chr7:150660157-150660171
21	CTCF	chr7:150660140-150660290	AoAF	blood vessel:	n/a	chr7:150660157-150660170
22	ZNF143	chr7:150660090-150660431	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr7:150660093-150660365	Kidney_OC	kidney:	n/a	chr7:150660157-150660170
24	CTCF	chr7:150660160-150660310	HL-60	blood:	n/a	n/a
25	CTCF	chr7:150660091-150660342	ECC-1	luminal epithelium:	n/a	chr7:150660157-150660170
26	RAD21	chr7:150659958-150660522	A549	lung:	n/a	chr7:150660201-150660215 chr7:150660200-150660214 chr7:150660157-150660171
27	CTCF	chr7:150660101-150660340	SK-N-SH_RA	brain:	n/a	chr7:150660157-150660170
28	YY1	chr7:150659930-150660435	K562	blood:	n/a	chr7:150660315-150660324
29	CTCF	chr7:150660140-150660290	HCFaa	heart:	n/a	chr7:150660157-150660170
30	CTCF	chr7:150660092-150660393	K562	blood:	n/a	chr7:150660157-150660170
31	TBP	chr7:150659652-150660357	K562	blood:	n/a	n/a
32	SMC3	chr7:150658601-150660684	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr7:150660160-150660310	GM12873	blood:	n/a	n/a
34	CEBPB	chr7:150660152-150660395	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr7:150660120-150660270	NHDF-neo	bronchial:	n/a	chr7:150660157-150660170
36	RAD21	chr7:150659889-150660502	MCF-7	breast:	n/a	chr7:150660201-150660215 chr7:150660200-150660214 chr7:150660157-150660171
37	CTCF	chr7:150660081-150660388	MCF-7	breast:	n/a	chr7:150660157-150660170
38	HMGN3	chr7:150659832-150660468	K562	blood:	n/a	n/a
39	MAFK	chr7:150660091-150660280	HepG2	liver:	n/a	n/a
40	CTCF	chr7:150660112-150660348	HepG2	liver:	n/a	chr7:150660157-150660170
41	MAZ	chr7:150660105-150660352	GM12878	blood:	n/a	n/a
42	CTCF	chr7:150660160-150660310	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr7:150660160-150660310	AG09319	gingival:	n/a	n/a
44	RCOR1	chr7:150660231-150660292	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr7:150660052-150660426	Hela-S3	cervix:	n/a	chr7:150660201-150660215 chr7:150660200-150660214 chr7:150660157-150660171
46	ZC3H11A	chr7:150660074-150660352	K562	blood:	n/a	n/a
47	CTCF	chr7:150660140-150660290	HRPEpiC	eye:	n/a	chr7:150660157-150660170
48	CTCF	chr7:150660120-150660270	A549	lung:	n/a	chr7:150660157-150660170
49	GTF2F1	chr7:150660127-150660327	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:150660003-150660510	MCF-7	breast:	n/a	chr7:150660157-150660170

No.	Distal block	Cell Line	Cell type
1	chr7:150659763..150660748-chr7:150714974..150716360,6	MCF-7	breast:
2	chr7:150595266..150596292-chr7:150659766..150660896,3	K562	blood:
3	chr7:150659653..150661146-chr7:150682756..150683794,15	MCF-7	breast:
4	chr7:150659742..150661687-chr7:150758511..150760464,2	MCF-7	breast:
5	chr7:150659654..150660671-chr7:150869377..150870320,4	K562	blood:
6	chr7:150659964..150660756-chr7:150714935..150715624,4	K562	blood:
7	chr7:150660003..150661126-chr7:150807869..150808616,4	K562	blood:
8	chr7:150660145..150660725-chr7:150806826..150807380,2	K562	blood:
9	chr7:150659831..150660724-chr7:150705506..150706304,4	K562	blood:
10	chr7:150659979..150660497-chr7:150942461..150943164,2	K562	blood:
11	chr7:150659788..150660872-chr7:150685312..150686268,6	K562	blood:
12	chr7:150659474..150661076-chr7:150869323..150870357,10	MCF-7	breast:
13	chr7:150659942..150661020-chr7:150684881..150686388,5	MCF-7	breast:
14	chr7:150648894..150650627-chr7:150658105..150660939,2	MCF-7	breast:
15	chr7:150660181..150662732-chr7:150758649..150760673,2	MCF-7	breast:
16	chr7:150659071..150661838-chr7:150773890..150776136,2	MCF-7	breast:
17	chr7:150658735..150660736-chr7:150752476..150754093,2	MCF-7	breast:
18	chr7:150624883..150625573-chr7:150659924..150660724,2	K562	blood:
19	chr7:150660211..150660725-chr7:150685659..150686206,2	MCF-7	breast:
20	chr7:150659969..150660714-chr7:150715006..150715747,3	MCF-7	breast:
21	chr7:150659819..150660778-chr7:150683071..150683778,7	K562	blood:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10236214	0.93[ASN][1000 genomes]
rs1547958	0.86[EUR][1000 genomes]
rs1805123	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2907948	0.85[EUR][1000 genomes]
rs2968854	0.86[EUR][1000 genomes]
rs2968856	0.81[EUR][1000 genomes]
rs2968863	0.83[EUR][1000 genomes]
rs2968864	0.83[EUR][1000 genomes]
rs4725984	0.93[ASN][1000 genomes]
rs56282717	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947240	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
6	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	52 gene(s)	inside rSNPs	diseases
11	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
15	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
18	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
19	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
21	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150652200-150663800	Weak transcription	HSMMtube	muscle
2	chr7:150652600-150662200	Enhancers	Fetal Heart	heart
3	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:150657000-150661800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:150657200-150669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150657600-150661600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:150657800-150663400	Enhancers	Fetal Lung	lung
8	chr7:150657800-150663400	Enhancers	Right Ventricle	heart
9	chr7:150658000-150663000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr7:150658000-150663200	Enhancers	Fetal Brain Male	brain
11	chr7:150658000-150663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:150658000-150663400	Enhancers	Left Ventricle	heart
13	chr7:150658000-150665800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:150658200-150660600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:150658200-150670800	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:150658400-150660800	Weak transcription	Fetal Brain Female	brain
17	chr7:150658600-150660400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:150658600-150662400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:150658600-150666000	Enhancers	Colon Smooth Muscle	Colon
20	chr7:150658600-150666200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:150658800-150660400	Enhancers	Ovary	ovary
22	chr7:150658800-150660600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150658800-150660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:150658800-150660600	Enhancers	Fetal Intestine Large	intestine
25	chr7:150658800-150660800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr7:150658800-150661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:150658800-150663400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr7:150658800-150663400	Bivalent Enhancer	Placenta	Placenta
29	chr7:150658800-150670400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:150659000-150660600	Enhancers	Fetal Intestine Small	intestine
31	chr7:150659000-150660800	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:150659000-150662600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:150659200-150660600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:150659200-150660800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:150659200-150661400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:150659200-150662000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:150659400-150660400	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:150659400-150660600	Enhancers	Fetal Thymus	thymus
39	chr7:150659400-150661200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:150659600-150660400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:150659600-150660600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:150659600-150660600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr7:150659600-150663400	Genic enhancers	Fetal Stomach	stomach
44	chr7:150659800-150660400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:150659800-150660400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:150659800-150660400	Enhancers	Brain Germinal Matrix	brain
47	chr7:150659800-150660600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:150659800-150660600	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:150659800-150660800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:150660000-150660400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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