Variant report

Variant	rs73303980
Chromosome Location	chr8:91522287-91522288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:91522279-91522441	NHEK	skin:	n/a	n/a
2	CTCF	chr8:91522266-91522446	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr8:91522260-91522410	HMEC	breast:	n/a	n/a
4	CTCF	chr8:91522260-91522410	GM12873	blood:	n/a	n/a
5	CTCF	chr8:91522280-91522430	SAEC	small airway:	n/a	n/a
6	CTCF	chr8:91522240-91522390	NHEK	skin:	n/a	n/a
7	CTCF	chr8:91522260-91522410	BJ	skin:	n/a	n/a
8	YY1	chr8:91522251-91522474	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:91522280-91522430	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr8:91522220-91522370	HRPEpiC	eye:	n/a	n/a
11	SMC3	chr8:91522160-91522482	GM12878	blood:	n/a	n/a
12	RAD21	chr8:91522172-91522459	HepG2	liver:	n/a	n/a
13	RAD21	chr8:91522162-91522530	GM12878	blood:	n/a	n/a
14	CTCF	chr8:91522280-91522430	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr8:91522232-91522483	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:91522280-91522430	HL-60	blood:	n/a	n/a
17	CTCF	chr8:91522240-91522390	HCM	heart:	n/a	n/a
18	RAD21	chr8:91522103-91522562	A549	lung:	n/a	n/a
19	CTCF	chr8:91522280-91522430	HCFaa	heart:	n/a	n/a
20	CTCF	chr8:91522200-91522350	GM06990	blood:	n/a	n/a
21	CTCF	chr8:91522260-91522410	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr8:91522226-91522428	A549	lung:	n/a	n/a
23	CTCF	chr8:91522280-91522430	GM12873	blood:	n/a	n/a
24	CTCF	chr8:91522240-91522390	HMF	breast:	n/a	n/a
25	CTCF	chr8:91522220-91522370	HepG2	liver:	n/a	n/a
26	CTCF	chr8:91522240-91522390	GM12872	blood:	n/a	n/a
27	CEBPB	chr8:91522283-91522342	K562	blood:	n/a	n/a
28	CTCF	chr8:91522280-91522430	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr8:91522248-91522482	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:91522220-91522370	HPAF	blood vessel:	n/a	n/a
31	RAD21	chr8:91522089-91522612	HCT-116	colon:	n/a	n/a
32	CTCF	chr8:91522200-91522350	A549	lung:	n/a	n/a
33	CTCF	chr8:91522201-91522506	K562	blood:	n/a	n/a
34	ZNF143	chr8:91522195-91522494	GM12878	blood:	n/a	n/a
35	CTCF	chr8:91522170-91522475	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr8:91522185-91522492	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr8:91522140-91522290	NHEK	skin:	n/a	n/a
38	CTCF	chr8:91522200-91522350	HA-sp	spinal cord:	n/a	n/a
39	RAD21	chr8:91522243-91522480	A549	lung:	n/a	n/a
40	RAD21	chr8:91522082-91522492	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr8:91522152-91522594	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr8:91522240-91522390	GM12868	blood:	n/a	n/a
43	CTCF	chr8:91522278-91522421	Lung_OC	lung:	n/a	n/a
44	RAD21	chr8:91522181-91522425	SK-N-SH_RA	brain:	n/a	n/a
45	CEBPB	chr8:91522153-91522664	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:91522280-91522430	A549	lung:	n/a	n/a
47	CTCF	chr8:91522240-91522390	HEK293	kidney:	n/a	n/a
48	CTCF	chr8:91522220-91522370	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr8:91522280-91522430	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr8:91522280-91522430	BE2_C	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91519468..91522365-chr8:91655850..91658412,2	MCF-7	breast:
2	chr8:91013139..91014049-chr8:91522113..91522615,2	MCF-7	breast:
3	chr8:91012735..91013523-chr8:91521856..91522741,6	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP273	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000104325	Chromatin interaction

rs_ID	r²[population]
rs57550344	1.00[AMR][1000 genomes]
rs57820529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57982498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57995155	1.00[AMR][1000 genomes]
rs59588987	1.00[AMR][1000 genomes]
rs61305476	1.00[AMR][1000 genomes]
rs73296038	0.87[AFR][1000 genomes]
rs73303917	1.00[AMR][1000 genomes]
rs73303921	1.00[AMR][1000 genomes]
rs73303924	1.00[AMR][1000 genomes]
rs73303926	1.00[AMR][1000 genomes]
rs73303944	1.00[AMR][1000 genomes]
rs73303958	1.00[AMR][1000 genomes]
rs73303965	1.00[AMR][1000 genomes]
rs73303968	1.00[AMR][1000 genomes]
rs73303972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91517000-91522400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:91517600-91522400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:91520600-91522400	Enhancers	HUVEC	blood vessel
4	chr8:91521800-91523000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:91522000-91532400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:91522200-91522800	Enhancers	HSMMtube	muscle

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