Variant report

Variant	rs17664218
Chromosome Location	chr5:91980098-91980099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:91980040-91980190	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr5:91980080-91980230	BE2_C	brain:	n/a	n/a
3	CTCF	chr5:91980020-91980170	HEK293	kidney:	n/a	n/a
4	CTCF	chr5:91980062-91980160	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr5:91980020-91980170	HAc	cerebellar:	n/a	n/a
6	CTCF	chr5:91980000-91980150	AG10803	skin:	n/a	n/a
7	CTCF	chr5:91979980-91980130	HPF	lung:	n/a	n/a
8	CTCF	chr5:91980060-91980210	Caco-2	colon:	n/a	n/a
9	CTCF	chr5:91980060-91980210	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr5:91980020-91980170	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr5:91980040-91980190	HCFaa	heart:	n/a	n/a
12	CTCF	chr5:91980060-91980210	HPF	lung:	n/a	n/a
13	CTCF	chr5:91980007-91980255	A549	lung:	n/a	n/a
14	RAD21	chr5:91979957-91980327	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:91980040-91980190	HVMF	connective:	n/a	n/a
16	CTCF	chr5:91979980-91980130	GM12873	blood:	n/a	n/a
17	CTCF	chr5:91980060-91980210	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:91980040-91980190	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr5:91980035-91980276	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr5:91979925-91980282	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr5:91980080-91980230	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr5:91980060-91980210	HEK293	kidney:	n/a	n/a
23	CTCF	chr5:91980040-91980190	Caco-2	colon:	n/a	n/a
24	CTCF	chr5:91980000-91980150	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr5:91980040-91980190	WI-38	lung:	n/a	n/a
26	CTCF	chr5:91980060-91980210	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr5:91980080-91980230	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:91979980-91980130	GM12874	blood:	n/a	n/a
29	CTCF	chr5:91980020-91980170	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr5:91980020-91980170	AG04450	lung:	n/a	n/a
31	CTCF	chr5:91980000-91980150	RPTEC	kidney:	n/a	n/a
32	CTCF	chr5:91979960-91980110	GM12872	blood:	n/a	n/a
33	CTCF	chr5:91980055-91980222	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr5:91980080-91980230	AG09309	skin:	n/a	n/a
35	CTCF	chr5:91980020-91980170	HCT-116	colon:	n/a	n/a
36	CTCF	chr5:91980060-91980210	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr5:91980040-91980190	HepG2	liver:	n/a	n/a
38	CTCF	chr5:91980020-91980170	BE2_C	brain:	n/a	n/a
39	CTCF	chr5:91980020-91980170	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr5:91980071-91980183	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:91980020-91980170	GM12865	blood:	n/a	n/a
42	CTCF	chr5:91980020-91980170	HMF	breast:	n/a	n/a
43	CTCF	chr5:91980080-91980230	GM12873	blood:	n/a	n/a
44	CTCF	chr5:91979960-91980110	HVMF	connective:	n/a	n/a
45	CTCF	chr5:91980080-91980230	GM12865	blood:	n/a	n/a
46	RAD21	chr5:91979997-91980249	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:91980080-91980230	A549	lung:	n/a	n/a
48	CTCF	chr5:91980060-91980210	HCT-116	colon:	n/a	n/a
49	CTCF	chr5:91979960-91980110	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:91980060-91980210	HA-sp	spinal cord:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000249776	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17664587	0.85[CEU][hapmap]
rs17664921	1.00[CEU][hapmap]
rs41420550	1.00[AMR][1000 genomes]
rs62366738	0.90[AMR][1000 genomes]
rs62366741	0.86[AMR][1000 genomes]
rs62366759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62368463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62368466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7710144	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv882379	chr5:91938705-92064532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91977400-91980200	Weak transcription	Fetal Heart	heart
2	chr5:91977600-91980200	Weak transcription	Adipose Nuclei	Adipose
3	chr5:91977600-91981000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:91978000-91987800	Weak transcription	Fetal Lung	lung
5	chr5:91978200-91980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:91978200-91980200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:91978600-91980200	Weak transcription	Fetal Kidney	kidney
8	chr5:91979200-91980200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:91979600-91980400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:91979800-91980400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:91979800-91980400	Enhancers	Fetal Intestine Large	intestine
12	chr5:91979800-91980600	Enhancers	Liver	Liver
13	chr5:91980000-91980200	Weak transcription	Pancreas	Pancrea
14	chr5:91980000-91980400	Enhancers	HepG2	liver
15	chr5:91980000-91980600	Enhancers	Fetal Intestine Small	intestine

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