Variant report

Variant	rs73178512
Chromosome Location	chr7:100729466-100729467
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	POLR2A	chr7:100728348-100729489	HUVEC	blood vessel:	n/a	n/a
2	IRF1	chr7:100728435-100729494	K562	blood:	n/a	chr7:100728755-100728769 chr7:100728756-100728769 chr7:100728751-100728772 chr7:100728755-100728775 chr7:100728756-100728768 chr7:100728760-100728774 chr7:100728754-100728768 chr7:100728756-100728769 chr7:100728764-100728778 chr7:100728755-100728766 chr7:100728756-100728767 chr7:100728751-100728768 chr7:100728757-100728767 chr7:100728756-100728770 chr7:100728757-100728771 chr7:100728756-100728769 chr7:100728756-100728769 chr7:100728756-100728768
3	GABPA	chr7:100728070-100729496	MCF-7	breast:	n/a	n/a
4	TFAP2C	chr7:100728226-100729594	Hela-S3	cervix:	n/a	chr7:100729463-100729478
5	POLR2A	chr7:100728333-100729486	K562	blood:	n/a	n/a
6	POLR2A	chr7:100728279-100729626	GM12878	blood:	n/a	n/a
7	SIN3AK20	chr7:100728072-100729601	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:100728417-100729531	ProgFib	skin:	n/a	n/a
9	MAX	chr7:100728057-100729565	HCT-116	colon:	n/a	chr7:100728429-100728439
10	MAX	chr7:100728154-100729655	A549	lung:	n/a	chr7:100728429-100728439
11	TAF1	chr7:100728398-100729478	K562	blood:	n/a	n/a
12	E2F6	chr7:100728104-100729533	A549	lung:	n/a	chr7:100729017-100729028 chr7:100728995-100729006
13	TFAP2A	chr7:100728258-100729576	Hela-S3	cervix:	n/a	chr7:100728419-100728434 chr7:100728802-100728814
14	RCOR1	chr7:100728397-100729537	K562	blood:	n/a	n/a
15	TAF1	chr7:100729311-100729555	K562	blood:	n/a	n/a
16	MAX	chr7:100728183-100729552	A549	lung:	n/a	chr7:100728429-100728439
17	ELF1	chr7:100728268-100729663	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:100728240-100729485	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:100728205-100729485	HCT-116	colon:	n/a	n/a
20	POLR2A	chr7:100728328-100729529	K562	blood:	n/a	n/a
21	MAX	chr7:100728134-100729586	MCF-7	breast:	n/a	chr7:100728429-100728439
22	POLR2A	chr7:100728356-100729506	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:100728326-100729648	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr7:100728126-100729533	K562	blood:	n/a	chr7:100728429-100728439
25	POLR2A	chr7:100728384-100729485	HepG2	liver:	n/a	n/a
26	HCFC1	chr7:100727956-100729688	Hela-S3	cervix:	n/a	n/a
27	NR2F2	chr7:100728064-100729636	K562	blood:	n/a	chr7:100728824-100728839
28	WRNIP1	chr7:100728374-100729562	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:100728415-100729529	PANC-1	pancreas:	n/a	n/a
30	TEAD4	chr7:100728079-100729595	K562	blood:	n/a	chr7:100729100-100729109
31	NR2F2	chr7:100728050-100729592	MCF-7	breast:	n/a	chr7:100728824-100728839
32	POLR2A	chr7:100728306-100729522	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
2	chr7:100727024..100731132-chr7:100797267..100800501,4	MCF-7	breast:
3	chr7:100608278..100610726-chr7:100727790..100730785,2	MCF-7	breast:
4	chr7:100471127..100473629-chr7:100728368..100730220,3	K562	blood:
5	chr7:100728621..100730334-chr7:100895129..100897710,2	MCF-7	breast:
6	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
7	chr7:100727516..100730100-chr7:100796464..100799278,2	K562	blood:
8	chr7:100727759..100730257-chr7:100797481..100800178,3	MCF-7	breast:
9	chr7:100025071..100027924-chr7:100727777..100730095,3	K562	blood:

Variant related genes	Relation type
TRIM56	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10953321	0.84[EUR][1000 genomes]
rs10953322	0.81[EUR][1000 genomes]
rs11760747	0.86[EUR][1000 genomes]
rs11770414	0.87[ASN][1000 genomes]
rs11772356	0.89[ASN][1000 genomes]
rs12667943	0.91[ASN][1000 genomes]
rs12673732	0.84[EUR][1000 genomes]
rs13221804	0.81[EUR][1000 genomes]
rs13225064	0.80[ASN][1000 genomes]
rs13228919	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13232139	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13235999	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28651567	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35723463	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4422700	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4571672	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4613910	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57656984	0.85[ASN][1000 genomes]
rs67947224	0.84[EUR][1000 genomes]
rs73170203	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73178503	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73178506	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73178519	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73404898	0.84[EUR][1000 genomes]
rs7786422	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9791379	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9791726	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9792109	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	32 gene(s)	inside rSNPs	diseases
13	esv1811048	chr7:100675933-100730280	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1831657	chr7:100675933-100730280	Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
16	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
17	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100728200-100729600	Active TSS	Brain Angular Gyrus	brain
2	chr7:100728200-100729600	Active TSS	Brain Anterior Caudate	brain
3	chr7:100728200-100729600	Active TSS	Colon Smooth Muscle	Colon
4	chr7:100728200-100729600	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr7:100728200-100729800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:100728200-100729800	Active TSS	Psoas Muscle	Psoas
7	chr7:100728200-100730400	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:100728400-100729600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:100728400-100729600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:100728400-100729600	Active TSS	Fetal Kidney	kidney
11	chr7:100728400-100729600	Active TSS	Gastric	stomach
12	chr7:100728400-100729600	Active TSS	Ovary	ovary
13	chr7:100728400-100729800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:100728400-100729800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:100728400-100729800	Active TSS	Right Atrium	heart
16	chr7:100728400-100730000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:100728400-100730000	Active TSS	Esophagus	oesophagus
18	chr7:100728400-100730000	Active TSS	Lung	lung
19	chr7:100728400-100730000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:100728600-100729600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:100728600-100729600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:100728600-100729600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:100728600-100729600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:100728600-100729600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:100728600-100729600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:100728600-100729600	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr7:100728600-100729600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:100728600-100729600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:100728600-100729600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:100728600-100729600	Active TSS	Brain Hippocampus Middle	brain
31	chr7:100728600-100729600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:100728600-100729600	Active TSS	Fetal Intestine Large	intestine
33	chr7:100728600-100729600	Active TSS	Left Ventricle	heart
34	chr7:100728600-100729600	Active TSS	NHDF-Ad	bronchial
35	chr7:100728600-100729800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:100728600-100729800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:100728600-100729800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:100728600-100729800	Active TSS	Right Ventricle	heart
39	chr7:100728600-100729800	Active TSS	Hela-S3	cervix
40	chr7:100728600-100729800	Active TSS	NHLF	lung
41	chr7:100728600-100730000	Active TSS	GM12878-XiMat	blood
42	chr7:100728600-100730000	Active TSS	HMEC	breast
43	chr7:100728600-100730000	Active TSS	HSMM	muscle
44	chr7:100728800-100729600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:100728800-100729600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr7:100729000-100729600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr7:100729000-100729600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr7:100729000-100729600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr7:100729000-100729600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr7:100729000-100729600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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