Variant report

Variant	rs73395957
Chromosome Location	chr7:99697220-99697221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr7:99697172-99697607	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99694417-99699772	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:99694703-99697612	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:99694653-99697678	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:99697001-99697718	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr7:99696123-99700530	SK-N-SH	brain:	n/a	chr7:99696168-99696177 chr7:99699039-99699048
7	POLR2A	chr7:99697131-99697580	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:99696453-99697702	HL-60	blood:	n/a	n/a
9	HEY1	chr7:99694628-99697652	K562	blood:	n/a	chr7:99695196-99695205
10	POLR2A	chr7:99687998-99697728	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:99697187-99697563	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:99697036-99697685	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr7:99697082-99697568	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:99696518-99697641	K562	blood:	n/a	n/a
15	POLR2A	chr7:99694702-99697727	K562	blood:	n/a	n/a
16	POLR2A	chr7:99694646-99700079	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:99697071-99697538	GM12878	blood:	n/a	n/a
18	JUN	chr7:99697174-99700619	K562	blood:	n/a	chr7:99697600-99697609 chr7:99699066-99699075
19	POLR2A	chr7:99697024-99697424	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr7:99697140-99697290	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr7:99697037-99697620	K562	blood:	n/a	n/a
22	CHD2	chr7:99697125-99697326	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:99694505-99700789	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr7:99697141-99697439	T-47D	breast:	n/a	n/a
25	POLR2A	chr7:99697193-99699847	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:99697075-99697588	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:99694635-99697617	K562	blood:	n/a	n/a
28	POLR2A	chr7:99697189-99697486	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:99697088-99697675	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:99694594-99699682	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:99697119-99699129	A549	lung:	n/a	n/a
32	POLR2A	chr7:99696694-99697351	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:99697113-99697517	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99694577-99700301	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr7:99696355-99697688	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:99697016-99697497	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99697172-99697222	AG09319	gingival:	n/a
2	chr7:99697172-99697222	GM06990	blood:	n/a
3	chr7:99697172-99697222	AG04450	lung:	fetal
4	chr7:99697172-99697222	Caco-2	colon:	n/a
5	chr7:99697172-99697222	PANC-1	pancreas:	n/a
6	chr7:99697172-99697222	SK-N-SH	brain:	n/a
7	chr7:99697172-99697222	PFSK-1	brain:	n/a
8	chr7:99697172-99697222	GM12891	blood:	n/a
9	chr7:99697172-99697222	HRPEpiC	eye:	n/a
10	chr7:99697172-99697222	CMK	blood:	n/a
11	chr7:99697172-99697222	Hepatocyte	liver:	n/a
12	chr7:99697172-99697222	MCF10A-Er-Src	breast:	n/a
13	chr7:99697172-99697222	GM19239	blood:	n/a
14	chr7:99697172-99697222	Hela-S3	cervix:	n/a
15	chr7:99697172-99697222	AG04449	skin:	fetal
16	chr7:99697172-99697222	HUVEC	blood vessel:	n/a
17	chr7:99697172-99697222	A549	lung:	n/a
18	chr7:99697172-99697222	HMEC	breast:	n/a
19	chr7:99697172-99697222	ProgFib	skin:	n/a
20	chr7:99697172-99697222	U87	brain:	n/a
21	chr7:99697172-99697222	K562	blood:	n/a
22	chr7:99697172-99697222	ECC-1	luminal epithelium:	n/a
23	chr7:99697172-99697222	NT2-D1	testis:	n/a
24	chr7:99697172-99697222	SAEC	small airway:	n/a
25	chr7:99697172-99697222	H1-hESC	embryonic stem cell:	embryo
26	chr7:99697172-99697222	HEEpiC	esophagus:	n/a
27	chr7:99697172-99697222	HAEpiC	amniotic membrane:	n/a
28	chr7:99697172-99697222	HCM	heart:	n/a
29	chr7:99697172-99697222	HNPCEpiC	eye:	n/a
30	chr7:99697172-99697222	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:99697172-99697222	HCF	heart:	n/a
32	chr7:99697172-99697222	HCT-116	colon:	n/a
33	chr7:99697172-99697222	SK-N-MC	brain:	n/a
34	chr7:99697172-99697222	GM12892	blood:	n/a
35	chr7:99697172-99697222	MCF-7	breast:	n/a
36	chr7:99697172-99697222	SKMC	muscle:	n/a
37	chr7:99697172-99697222	HIPEpiC	eye:	n/a
38	chr7:99697172-99697222	NHDF-neo	bronchial:	n/a
39	chr7:99697172-99697222	T-47D	breast:	n/a
40	chr7:99697172-99697222	GM12878	blood:	n/a
41	chr7:99697172-99697222	HCPEpiC	choroid plexus:	n/a
42	chr7:99697172-99697222	IMR90	lung:	fetal
43	chr7:99697172-99697222	NH-A	brain:	n/a
44	chr7:99697172-99697222	SK-N-SH_RA	brain:	n/a
45	chr7:99697172-99697222	HRE	kidney:	n/a
46	chr7:99697172-99697222	AG09309	skin:	n/a
47	chr7:99697172-99697222	BE2_C	brain:	n/a
48	chr7:99697172-99697222	HL-60	blood:	n/a
49	chr7:99697172-99697222	LNCaP	prostate:	n/a
50	chr7:99697172-99697222	BJ	skin:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99696160..99700887-chr7:99753963..99757907,5	K562	blood:
2	chr7:99695452..99699124-chr7:100025277..100027831,3	MCF-7	breast:
3	chr7:99696160..99699295-chr7:99753963..99757907,4	K562	blood:
4	chr7:99612390..99616211-chr7:99697108..99699457,4	K562	blood:
5	chr7:99645952..99651427-chr7:99695296..99699701,5	K562	blood:
6	chr7:99696789..99700792-chr7:100024893..100031468,10	K562	blood:
7	chr7:99697112..99700279-chr7:100024243..100028129,6	MCF-7	breast:
8	chr7:99645798..99648883-chr7:99696634..99699359,3	MCF-7	breast:
9	chr7:99004495..99006339-chr7:99697031..99698874,2	K562	blood:
10	chr7:99697080..99699701-chr7:100805624..100808540,2	MCF-7	breast:
11	chr7:99516652..99519879-chr7:99696878..99699951,3	MCF-7	breast:
12	chr7:99646207..99647783-chr7:99696961..99699503,2	MCF-7	breast:
13	chr7:99612390..99617445-chr7:99697108..99699685,5	K562	blood:
14	chr7:99696898..99700086-chr7:99750657..99754674,4	MCF-7	breast:
15	chr7:99697181..99698969-chr7:99947423..99949421,2	K562	blood:
16	chr7:99061682..99064704-chr7:99696557..99699487,3	K562	blood:
17	chr7:99035431..99038374-chr7:99696976..99699327,2	K562	blood:
18	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
19	chr17:56734803..56736757-chr7:99696174..99697894,2	MCF-7	breast:

No data

Variant related genes	Relation type
MCM7	TF binding region
AP4M1	TF binding region
MCM7	CpG island
AP4M1	CpG island
ENSG00000146833	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000272752	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796719	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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	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
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99688200-99697400	Strong transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:99688600-99697400	Strong transcription	Aorta	Aorta
3	chr7:99693400-99697600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:99694800-99697800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:99695000-99697600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:99695200-99697800	Transcr. at gene 5' and 3'	Hela-S3	cervix
7	chr7:99695600-99697400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
8	chr7:99695600-99697600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
9	chr7:99696000-99697400	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr7:99696000-99698000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:99696200-99697800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:99696200-99697800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:99696200-99698400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr7:99696400-99697400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:99696600-99697400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr7:99696600-99697400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:99696600-99697400	Genic enhancers	K562	blood
18	chr7:99696600-99697600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr7:99696600-99697600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:99696600-99697600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
25	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Fetal Lung	lung
26	chr7:99696600-99697600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
27	chr7:99696600-99697800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
28	chr7:99696600-99697800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
29	chr7:99696600-99698000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:99696600-99698000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
31	chr7:99696600-99698200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
32	chr7:99696800-99697400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:99696800-99697400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:99696800-99697400	Genic enhancers	Brain Angular Gyrus	brain
35	chr7:99696800-99697400	Genic enhancers	Colonic Mucosa	Colon
36	chr7:99696800-99697400	Genic enhancers	Colon Smooth Muscle	Colon
37	chr7:99696800-99697400	Genic enhancers	Lung	lung
38	chr7:99696800-99697400	Genic enhancers	Placenta Amnion	Placenta Amnion
39	chr7:99696800-99697400	Weak transcription	Psoas Muscle	Psoas
40	chr7:99696800-99697400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
41	chr7:99696800-99697600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:99696800-99697600	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:99696800-99697600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:99696800-99697600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
45	chr7:99696800-99697600	Genic enhancers	Placenta	Placenta
46	chr7:99696800-99697600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr7:99696800-99697600	Transcr. at gene 5' and 3'	HSMM	muscle
48	chr7:99696800-99697600	Transcr. at gene 5' and 3'	HSMMtube	muscle
49	chr7:99696800-99697600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
50	chr7:99696800-99698000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

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