Variant report

Variant	rs34372667
Chromosome Location	chr7:56174625-56174626
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	MYC	chr7:56173289-56175642	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
2	POLR2A	chr7:56173740-56174650	U87	brain:	n/a	n/a
3	REST	chr7:56173701-56174687	HL-60	blood:	n/a	n/a
4	MAZ	chr7:56173812-56175768	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
5	CHD1	chr7:56172805-56174968	IMR90	lung:	n/a	n/a
6	MTA3	chr7:56173307-56174625	GM12878	blood:	n/a	n/a
7	IRF4	chr7:56174138-56174640	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:56173695-56174704	PANC-1	pancreas:	n/a	n/a
9	BCLAF1	chr7:56173812-56174664	GM12878	blood:	n/a	chr7:56173949-56173962 chr7:56173972-56173985
10	TCF12	chr7:56173555-56174760	A549	lung:	n/a	chr7:56174428-56174438 chr7:56174432-56174439
11	CREB1	chr7:56174612-56175352	K562	blood:	n/a	n/a
12	MXI1	chr7:56173240-56175231	K562	blood:	n/a	chr7:56173817-56173826
13	POLR2A	chr7:56173882-56174670	SK-N-MC	brain:	n/a	n/a
14	TCF12	chr7:56173948-56174696	ECC-1	luminal epithelium:	n/a	chr7:56174428-56174438 chr7:56174432-56174439
15	TRIM28	chr7:56173888-56174635	K562	blood:	n/a	n/a
16	MYC	chr7:56173047-56175630	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
17	POU2F2	chr7:56173802-56174647	GM12878	blood:	n/a	n/a
18	RCOR1	chr7:56174003-56175750	K562	blood:	n/a	n/a
19	MAX	chr7:56173340-56174694	A549	lung:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
20	EP300	chr7:56173429-56175213	GM12878	blood:	n/a	chr7:56174629-56174639 chr7:56174748-56174762 chr7:56173887-56173900 chr7:56174352-56174359
21	HA-E2F1	chr7:56173876-56174676	MCF-7	breast:	n/a	chr7:56174187-56174196 chr7:56174328-56174339 chr7:56173972-56173981
22	ELF1	chr7:56173821-56174636	GM12878	blood:	n/a	chr7:56174234-56174247 chr7:56174349-56174360 chr7:56174350-56174359 chr7:56174349-56174360
23	POLR2A	chr7:56172964-56174948	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:56173837-56174679	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:56173021-56175328	HepG2	liver:	n/a	n/a
26	SP1	chr7:56173721-56174652	A549	lung:	n/a	chr7:56174183-56174197 chr7:56174188-56174197 chr7:56174186-56174198 chr7:56174187-56174196 chr7:56174186-56174198
27	IRF1	chr7:56173275-56175820	K562	blood:	n/a	chr7:56174663-56174673 chr7:56174186-56174200 chr7:56174663-56174677
28	RFX5	chr7:56173276-56175185	K562	blood:	n/a	n/a
29	POLR2A	chr7:56173624-56175332	K562	blood:	n/a	n/a
30	POLR2A	chr7:56165178-56175093	K562	blood:	n/a	n/a
31	REST	chr7:56173658-56174644	A549	lung:	n/a	n/a
32	TBP	chr7:56173097-56174861	GM12878	blood:	n/a	n/a
33	ELF1	chr7:56173200-56174732	SK-N-SH	brain:	n/a	chr7:56174234-56174247 chr7:56174349-56174360 chr7:56174350-56174359 chr7:56173747-56173758 chr7:56174349-56174360 chr7:56173747-56173758
34	POLR2A	chr7:56173115-56175287	K562	blood:	n/a	n/a
35	ELF1	chr7:56173704-56174743	HCT-116	colon:	n/a	chr7:56174234-56174247 chr7:56174349-56174360 chr7:56174350-56174359 chr7:56173747-56173758 chr7:56174349-56174360 chr7:56173747-56173758
36	GABPA	chr7:56173333-56174771	SK-N-SH	brain:	n/a	chr7:56173972-56173981
37	GATA3	chr7:56173905-56174735	A549	lung:	n/a	chr7:56174484-56174493
38	GABPA	chr7:56173340-56175094	MCF-7	breast:	n/a	chr7:56173972-56173981
39	POLR2A	chr7:56173747-56174632	GM18951	blood:	n/a	n/a
40	PML	chr7:56173819-56174628	K562	blood:	n/a	n/a
41	MYBL2	chr7:56173947-56174747	HepG2	liver:	n/a	n/a
42	NR2F2	chr7:56173558-56175358	K562	blood:	n/a	n/a
43	ELF1	chr7:56173833-56174627	GM12878	blood:	n/a	chr7:56174234-56174247 chr7:56174349-56174360 chr7:56174350-56174359 chr7:56174349-56174360
44	ZMIZ1	chr7:56173157-56175717	K562	blood:	n/a	n/a
45	POLR2A	chr7:56173592-56174726	GM12892	blood:	n/a	n/a
46	POLR2A	chr7:56173741-56174644	GM12892	blood:	n/a	n/a
47	STAT1	chr7:56173183-56174664	Hela-S3	cervix:	n/a	chr7:56173771-56173791
48	POLR2A	chr7:56173841-56174769	HUVEC	blood vessel:	n/a	n/a
49	CEBPD	chr7:56173891-56175335	K562	blood:	n/a	n/a
50	ELF1	chr7:56173859-56174736	MCF-7	breast:	n/a	chr7:56174234-56174247 chr7:56174349-56174360 chr7:56174350-56174359 chr7:56174349-56174360

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56166954..56169953-chr7:56173700..56175335,2	MCF-7	breast:
2	chr7:56173528..56175860-chr7:56295526..56297795,2	K562	blood:

Variant related genes	Relation type
CHCHD2	TF binding region
ENSG00000227491	Chromatin interaction
ENSG00000238673	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13221255	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13232756	0.86[EUR][1000 genomes]
rs13236894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238152	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13238424	0.98[EUR][1000 genomes]
rs13239795	0.86[EUR][1000 genomes]
rs13241227	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13243725	0.86[EUR][1000 genomes]
rs13340526	0.86[EUR][1000 genomes]
rs2242510	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28498258	0.82[EUR][1000 genomes]
rs34057777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34287940	0.93[EUR][1000 genomes]
rs34304703	0.82[EUR][1000 genomes]
rs34667212	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34719521	0.86[EUR][1000 genomes]
rs34874704	0.86[EUR][1000 genomes]
rs35092795	0.91[EUR][1000 genomes]
rs35160834	0.86[EUR][1000 genomes]
rs35210477	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35307785	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35551160	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35557048	0.93[ASN][1000 genomes]
rs35704704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35829286	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35928425	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3735066	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3813504	0.82[EUR][1000 genomes]
rs4360246	0.86[EUR][1000 genomes]
rs56917729	0.86[EUR][1000 genomes]
rs71543773	0.84[EUR][1000 genomes]
rs71543784	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71543785	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71543788	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71543793	0.85[EUR][1000 genomes]
rs73343714	0.86[EUR][1000 genomes]
rs73343719	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56172200-56174800	Active TSS	GM12878-XiMat	blood
2	chr7:56172200-56175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:56172600-56174800	Active TSS	Psoas Muscle	Psoas
4	chr7:56172600-56175000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:56172600-56175000	Active TSS	HSMM	muscle
6	chr7:56172800-56174800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:56172800-56174800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:56172800-56174800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:56172800-56174800	Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:56172800-56174800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:56172800-56174800	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:56172800-56174800	Active TSS	HMEC	breast
13	chr7:56172800-56175000	Active TSS	NHLF	lung
14	chr7:56173000-56174800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:56173000-56174800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:56173000-56174800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:56173000-56174800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:56173000-56174800	Active TSS	Right Ventricle	heart
19	chr7:56173000-56174800	Active TSS	Thymus	Thymus
20	chr7:56173000-56175000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:56173000-56175000	Active TSS	Right Atrium	heart
22	chr7:56173000-56175200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr7:56173200-56174800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:56173200-56174800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:56173200-56174800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:56173200-56174800	Active TSS	Colonic Mucosa	Colon
27	chr7:56173200-56174800	Active TSS	Fetal Intestine Large	intestine
28	chr7:56173200-56174800	Active TSS	Fetal Intestine Small	intestine
29	chr7:56173200-56174800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr7:56173200-56174800	Active TSS	A549	lung
31	chr7:56173200-56174800	Active TSS	NHDF-Ad	bronchial
32	chr7:56173200-56175000	Active TSS	NH-A	brain
33	chr7:56173200-56175000	Active TSS	NHEK	skin
34	chr7:56173400-56174800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:56173400-56174800	Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:56173400-56174800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:56173400-56174800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:56173400-56174800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:56173400-56174800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:56173400-56174800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:56173400-56174800	Active TSS	Aorta	Aorta
42	chr7:56173400-56174800	Active TSS	Liver	Liver
43	chr7:56173400-56174800	Active TSS	Brain Angular Gyrus	brain
44	chr7:56173400-56174800	Active TSS	Brain Substantia Nigra	brain
45	chr7:56173400-56174800	Active TSS	Colon Smooth Muscle	Colon
46	chr7:56173400-56174800	Active TSS	Fetal Brain Male	brain
47	chr7:56173400-56174800	Active TSS	Fetal Heart	heart
48	chr7:56173400-56174800	Active TSS	Fetal Lung	lung
49	chr7:56173400-56174800	Active TSS	Fetal Muscle Trunk	muscle
50	chr7:56173400-56174800	Active TSS	Fetal Muscle Leg	muscle

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