Variant report

Variant	rs73172720
Chromosome Location	chr7:150096934-150096935
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	TFAP2A	chr7:150096810-150097820	Hela-S3	cervix:	n/a	chr7:150096814-150096826 chr7:150096812-150096826 chr7:150096814-150096826 chr7:150097381-150097391 chr7:150097379-150097393 chr7:150096878-150096892 chr7:150096878-150096892 chr7:150096814-150096826 chr7:150096814-150096826 chr7:150097379-150097393 chr7:150097379-150097394
2	NR2F2	chr7:150096919-150097920	MCF-7	breast:	n/a	n/a
3	MAFK	chr7:150096906-150097683	Hela-S3	cervix:	n/a	chr7:150097127-150097142 chr7:150097124-150097140 chr7:150097122-150097142 chr7:150097125-150097139
4	GATA3	chr7:150096827-150098011	MCF-7	breast:	n/a	chr7:150097407-150097416
5	FOSL1	chr7:150096929-150097943	HCT-116	colon:	n/a	chr7:150097409-150097416 chr7:150097106-150097114 chr7:150097104-150097115 chr7:150097409-150097418 chr7:150097407-150097419
6	JUN	chr7:150096588-150099025	K562	blood:	n/a	chr7:150097409-150097416 chr7:150097106-150097114 chr7:150097104-150097115 chr7:150097409-150097418 chr7:150097407-150097419
7	NR2F2	chr7:150096715-150097980	MCF-7	breast:	n/a	n/a
8	SMARCC1	chr7:150096818-150097929	Hela-S3	cervix:	n/a	chr7:150097105-150097114
9	EBF1	chr7:150096676-150096964	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:150096656-150097429	GM12878	blood:	n/a	n/a
11	PML	chr7:150096916-150097877	K562	blood:	n/a	n/a
12	MXI1	chr7:150096592-150098336	SK-N-SH	brain:	n/a	chr7:150098125-150098134 chr7:150098127-150098136 chr7:150098125-150098134
13	POLR2A	chr7:150096768-150098224	K562	blood:	n/a	n/a
14	FOSL1	chr7:150096913-150097885	K562	blood:	n/a	chr7:150097409-150097416 chr7:150097106-150097114 chr7:150097104-150097115 chr7:150097409-150097418 chr7:150097407-150097419
15	FOSL2	chr7:150096928-150097903	MCF-7	breast:	n/a	chr7:150097409-150097416 chr7:150097106-150097114 chr7:150097104-150097115 chr7:150097409-150097418 chr7:150097407-150097419
16	SMARCC2	chr7:150096932-150097790	Hela-S3	cervix:	n/a	chr7:150097105-150097114
17	SIN3AK20	chr7:150096632-150098084	MCF-7	breast:	n/a	n/a
18	CEBPB	chr7:150096922-150097798	Hela-S3	cervix:	n/a	chr7:150096975-150096992 chr7:150096980-150096991
19	NR2F2	chr7:150096795-150098144	K562	blood:	n/a	n/a
20	GATA3	chr7:150096773-150097965	MCF-7	breast:	n/a	chr7:150097407-150097416
21	CHD2	chr7:150096873-150097837	Hela-S3	cervix:	n/a	n/a
22	TEAD4	chr7:150096880-150098122	K562	blood:	n/a	n/a
23	POLR2A	chr7:150095804-150098518	K562	blood:	n/a	n/a
24	TFAP2C	chr7:150096738-150097810	Hela-S3	cervix:	n/a	chr7:150097377-150097392

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:150018966..150021939-chr7:150095611..150098750,5	K562	blood:
3	chr7:150069152..150071203-chr7:150094833..150097484,2	MCF-7	breast:
4	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:
5	chr7:150087569..150089555-chr7:150095693..150097782,2	MCF-7	breast:
6	chr7:150063752..150069023-chr7:150095376..150104764,21	MCF-7	breast:
7	chr7:150018966..150021782-chr7:150094675..150098930,7	K562	blood:

Variant related genes	Relation type
ZNF775	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000240449	Chromatin interaction
ENSG00000106526	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28699652	1.00[ASN][1000 genomes]
rs35644663	1.00[ASN][1000 genomes]
rs4725886	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725901	1.00[ASN][1000 genomes]
rs56190733	1.00[ASN][1000 genomes]
rs62501473	1.00[ASN][1000 genomes]
rs62501488	1.00[ASN][1000 genomes]
rs71537965	1.00[ASN][1000 genomes]
rs71539834	1.00[ASN][1000 genomes]
rs7810110	0.89[EUR][1000 genomes]
rs867819	1.00[ASN][1000 genomes]
rs998927	1.00[ASN][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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	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
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150077400-150100800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:150077800-150097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:150078000-150100600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:150078200-150097200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:150078200-150097200	Weak transcription	HUVEC	blood vessel
6	chr7:150080000-150100200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:150080200-150100200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:150086400-150097200	Weak transcription	Stomach Mucosa	stomach
9	chr7:150086400-150100400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:150086400-150100600	Weak transcription	Fetal Brain Male	brain
11	chr7:150086600-150097000	Weak transcription	NH-A	brain
12	chr7:150086800-150101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:150087000-150101200	Weak transcription	Liver	Liver
14	chr7:150087400-150097000	Weak transcription	HepG2	liver
15	chr7:150088000-150100800	Weak transcription	HSMMtube	muscle
16	chr7:150088000-150101000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:150088200-150101200	Weak transcription	Fetal Kidney	kidney
18	chr7:150088400-150097200	Weak transcription	HSMM	muscle
19	chr7:150091000-150100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:150091600-150101000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:150091600-150101400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:150092600-150097600	Strong transcription	Fetal Intestine Small	intestine
23	chr7:150092600-150097800	Strong transcription	Fetal Stomach	stomach
24	chr7:150092800-150097200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:150092800-150097200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:150092800-150097800	Strong transcription	Fetal Brain Female	brain
27	chr7:150092800-150098200	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:150092800-150099600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:150093000-150097200	Strong transcription	Brain Anterior Caudate	brain
30	chr7:150093200-150097600	Strong transcription	Thymus	Thymus
31	chr7:150093200-150100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:150093400-150097200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:150093400-150100400	Weak transcription	Primary B cells from cord blood	blood
34	chr7:150094400-150097200	Strong transcription	Brain Substantia Nigra	brain
35	chr7:150095000-150097200	Enhancers	Fetal Heart	heart
36	chr7:150095400-150097200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:150095400-150097400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:150095600-150097200	Weak transcription	Gastric	stomach
39	chr7:150095600-150098000	Enhancers	HMEC	breast
40	chr7:150095600-150101000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:150095600-150101600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:150095600-150101600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:150095600-150101600	Weak transcription	Aorta	Aorta
44	chr7:150095800-150097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:150095800-150097200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:150095800-150097200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:150095800-150098000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:150095800-150101000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:150095800-150101600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:150095800-150101800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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