Variant report

Variant	rs73397519
Chromosome Location	chr7:99775615-99775616
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	MAX	chr7:99775033-99775794	H1-hESC	embryonic stem cell:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
2	USF1	chr7:99775055-99775678	SK-N-SH	brain:	n/a	n/a
3	SP1	chr7:99774648-99775632	H1-hESC	embryonic stem cell:	n/a	chr7:99775118-99775132 chr7:99775180-99775190 chr7:99775331-99775341 chr7:99775123-99775132 chr7:99775069-99775081 chr7:99775071-99775080 chr7:99775162-99775172 chr7:99775179-99775191 chr7:99775330-99775342 chr7:99775069-99775081 chr7:99775122-99775131 chr7:99775121-99775132 chr7:99775332-99775341 chr7:99775330-99775342 chr7:99775070-99775079 chr7:99775162-99775172 chr7:99775331-99775341 chr7:99775179-99775191 chr7:99775121-99775133 chr7:99775163-99775172 chr7:99775331-99775340 chr7:99775180-99775190 chr7:99775373-99775387 chr7:99775121-99775133 chr7:99775327-99775341 chr7:99775332-99775341
4	MAX	chr7:99774626-99775819	A549	lung:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
5	POLR2A	chr7:99775228-99775677	HUVEC	blood vessel:	n/a	n/a
6	USF1	chr7:99775155-99775686	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr7:99775082-99775739	H1-hESC	embryonic stem cell:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
8	POLR2A	chr7:99775213-99775646	H1-neurons	neurons:	n/a	n/a
9	ZBTB33	chr7:99775314-99775651	GM12878	blood:	n/a	chr7:99775465-99775472
10	MAX	chr7:99774733-99775620	HepG2	liver:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
11	MAX	chr7:99774666-99775695	MCF-7	breast:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
12	MAX	chr7:99774706-99775728	K562	blood:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
13	MAX	chr7:99774768-99775739	HepG2	liver:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
14	E2F6	chr7:99775148-99775797	K562	blood:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
15	NRF1	chr7:99775506-99775624	H1-hESC	embryonic stem cell:	n/a	chr7:99775506-99775520 chr7:99775508-99775517 chr7:99775506-99775517
16	E2F6	chr7:99775182-99775746	A549	lung:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
17	USF1	chr7:99775114-99775690	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr7:99774870-99775630	GM12878	blood:	n/a	chr7:99775467-99775476
19	SP1	chr7:99774770-99775620	GM12878	blood:	n/a	chr7:99775118-99775132 chr7:99775180-99775190 chr7:99775331-99775341 chr7:99775123-99775132 chr7:99775069-99775081 chr7:99775071-99775080 chr7:99775162-99775172 chr7:99775179-99775191 chr7:99775330-99775342 chr7:99775069-99775081 chr7:99775122-99775131 chr7:99775121-99775132 chr7:99775332-99775341 chr7:99775330-99775342 chr7:99775070-99775079 chr7:99775162-99775172 chr7:99775331-99775341 chr7:99775179-99775191 chr7:99775121-99775133 chr7:99775163-99775172 chr7:99775331-99775340 chr7:99775180-99775190 chr7:99775373-99775387 chr7:99775121-99775133 chr7:99775327-99775341 chr7:99775332-99775341
20	ZBTB33	chr7:99775211-99775660	GM12878	blood:	n/a	chr7:99775465-99775472
21	POLR2A	chr7:99775269-99775735	HL-60	blood:	n/a	n/a
22	MAX	chr7:99774695-99775817	HCT-116	colon:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
23	SP1	chr7:99774654-99775660	A549	lung:	n/a	chr7:99775118-99775132 chr7:99775180-99775190 chr7:99775331-99775341 chr7:99775123-99775132 chr7:99775069-99775081 chr7:99775071-99775080 chr7:99775162-99775172 chr7:99775179-99775191 chr7:99775330-99775342 chr7:99775069-99775081 chr7:99775122-99775131 chr7:99775121-99775132 chr7:99775332-99775341 chr7:99775330-99775342 chr7:99775070-99775079 chr7:99775162-99775172 chr7:99775331-99775341 chr7:99775179-99775191 chr7:99775121-99775133 chr7:99775163-99775172 chr7:99775331-99775340 chr7:99775180-99775190 chr7:99775373-99775387 chr7:99775121-99775133 chr7:99775327-99775341 chr7:99775332-99775341
24	MAX	chr7:99775083-99775764	ECC-1	luminal epithelium:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
25	MAX	chr7:99775061-99775779	A549	lung:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
26	MXI1	chr7:99773856-99776076	SK-N-SH	brain:	n/a	n/a
27	MAX	chr7:99774650-99775748	SK-N-SH	brain:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
28	TCF12	chr7:99775172-99775685	ECC-1	luminal epithelium:	n/a	n/a
29	MAZ	chr7:99774495-99775821	IMR90	lung:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
30	HMGN3	chr7:99774690-99775666	K562	blood:	n/a	n/a
31	E2F6	chr7:99774948-99775936	A549	lung:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
32	MAX	chr7:99774728-99775759	ECC-1	luminal epithelium:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
33	ZBTB33	chr7:99775147-99775807	SK-N-SH	brain:	n/a	chr7:99775465-99775472
34	MAX	chr7:99774743-99775725	SK-N-SH	brain:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
35	MAX	chr7:99774786-99775814	HCT-116	colon:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
36	CBX3	chr7:99775027-99775776	K562	blood:	n/a	n/a
37	E2F6	chr7:99775150-99775766	H1-hESC	embryonic stem cell:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
38	MXI1	chr7:99774456-99775724	IMR90	lung:	n/a	n/a
39	SETDB1	chr7:99775328-99775623	K562	blood:	n/a	chr7:99775507-99775516
40	USF1	chr7:99775193-99775744	ECC-1	luminal epithelium:	n/a	n/a
41	TCF12	chr7:99775127-99775781	A549	lung:	n/a	n/a
42	MAX	chr7:99775199-99775647	HUVEC	blood vessel:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
43	MAX	chr7:99775217-99775648	H1-hESC	embryonic stem cell:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381
44	E2F6	chr7:99774804-99775920	H1-hESC	embryonic stem cell:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
45	NR2F2	chr7:99774619-99775687	K562	blood:	n/a	n/a
46	E2F6	chr7:99774848-99775710	K562	blood:	n/a	chr7:99775331-99775340 chr7:99775507-99775516 chr7:99775206-99775216
47	MAX	chr7:99775187-99775642	A549	lung:	n/a	chr7:99775367-99775378 chr7:99775329-99775339 chr7:99775366-99775381

No.	Distal block	Cell Line	Cell type
1	chr7:99723966..99726705-chr7:99773626..99776513,3	K562	blood:
2	chr7:99754180..99757947-chr7:99773944..99778293,5	K562	blood:
3	chr7:99687387..99689514-chr7:99773501..99775690,2	MCF-7	breast:
4	chr7:99767104..99770027-chr7:99772999..99775636,2	MCF-7	breast:
5	chr7:99753430..99757124-chr7:99772344..99777147,8	MCF-7	breast:
6	chr7:99755258..99758996-chr7:99773394..99775783,3	MCF-7	breast:
7	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf59-1	chr7:99775560-99775628	NONHSAT122344

Variant related genes	Relation type
GPC2	TF binding region
STAG3	TF binding region
ENSG00000168090	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000266154	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10246363	0.87[AFR][1000 genomes]
rs56922690	0.90[AFR][1000 genomes]
rs57704269	0.85[AFR][1000 genomes]
rs6967372	0.81[AFR][1000 genomes]
rs73397555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399528	0.89[AFR][1000 genomes]
rs73399565	0.83[AFR][1000 genomes]
rs7793328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99774000-99775800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:99774200-99775800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:99774200-99775800	Active TSS	Fetal Brain Female	brain
4	chr7:99774200-99776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:99774400-99775800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:99774400-99775800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr7:99774400-99775800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:99774400-99775800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:99774400-99775800	Active TSS	HSMM	muscle
10	chr7:99774400-99775800	Bivalent/Poised TSS	NHEK	skin
11	chr7:99774600-99775800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:99774600-99775800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:99774600-99775800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:99774600-99775800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:99774600-99775800	Active TSS	Colonic Mucosa	Colon
16	chr7:99774600-99775800	Enhancers	Stomach Mucosa	stomach
17	chr7:99774600-99775800	Active TSS	A549	lung
18	chr7:99774600-99776000	Active TSS	Brain Substantia Nigra	brain
19	chr7:99774800-99775800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:99774800-99776000	Enhancers	Pancreas	Pancrea
21	chr7:99774800-99776000	Enhancers	Spleen	Spleen
22	chr7:99775000-99775800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:99775000-99775800	Enhancers	Fetal Brain Male	brain
24	chr7:99775000-99776000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr7:99775000-99776000	ZNF genes & repeats	Fetal Thymus	thymus
26	chr7:99775000-99778200	Weak transcription	K562	blood
27	chr7:99775000-99780600	Enhancers	Primary T cells from cord blood	blood
28	chr7:99775200-99775800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:99775200-99775800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:99775200-99775800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:99775200-99775800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:99775200-99775800	Enhancers	Fetal Heart	heart
33	chr7:99775200-99775800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr7:99775200-99775800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr7:99775400-99775800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr7:99775400-99775800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr7:99775400-99775800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:99775400-99775800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:99775400-99775800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:99775400-99775800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr7:99775400-99775800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:99775400-99775800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr7:99775400-99775800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:99775400-99775800	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr7:99775400-99775800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr7:99775400-99775800	Flanking Active TSS	Ovary	ovary
47	chr7:99775400-99775800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:99775400-99775800	Flanking Active TSS	Psoas Muscle	Psoas
49	chr7:99775400-99775800	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr7:99775400-99775800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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