Variant report

Variant	rs73985431
Chromosome Location	chr17:45962550-45962551
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	REST	chr17:45962391-45962747	H1-hESC	embryonic stem cell:	n/a	chr17:45962579-45962599 chr17:45962579-45962593 chr17:45962585-45962594 chr17:45962583-45962596 chr17:45962531-45962544 chr17:45962579-45962599 chr17:45962580-45962598 chr17:45962581-45962591 chr17:45962704-45962717 chr17:45962579-45962599
2	REST	chr17:45962456-45962682	Hela-S3	cervix:	n/a	chr17:45962579-45962599 chr17:45962579-45962593 chr17:45962585-45962594 chr17:45962583-45962596 chr17:45962531-45962544 chr17:45962579-45962599 chr17:45962580-45962598 chr17:45962581-45962591 chr17:45962579-45962599
3	REST	chr17:45962425-45962752	PFSK-1	brain:	n/a	chr17:45962579-45962599 chr17:45962579-45962593 chr17:45962585-45962594 chr17:45962583-45962596 chr17:45962531-45962544 chr17:45962579-45962599 chr17:45962580-45962598 chr17:45962581-45962591 chr17:45962704-45962717 chr17:45962579-45962599
4	JUND	chr17:45962455-45962655	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr17:45962437-45962736	ECC-1	luminal epithelium:	n/a	chr17:45962579-45962599 chr17:45962579-45962593 chr17:45962585-45962594 chr17:45962583-45962596 chr17:45962531-45962544 chr17:45962579-45962599 chr17:45962580-45962598 chr17:45962581-45962591 chr17:45962704-45962717 chr17:45962579-45962599
6	REST	chr17:45962379-45962744	H1-hESC	embryonic stem cell:	n/a	chr17:45962579-45962599 chr17:45962579-45962593 chr17:45962585-45962594 chr17:45962583-45962596 chr17:45962531-45962544 chr17:45962579-45962599 chr17:45962580-45962598 chr17:45962581-45962591 chr17:45962704-45962717 chr17:45962579-45962599
7	CTCF	chr17:45962400-45962550	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45955663..45958108-chr17:45961130..45962855,2	K562	blood:
2	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
3	chr17:45907336..45909766-chr17:45961019..45963765,2	K562	blood:
4	chr17:45961907..45963461-chr17:46123972..46126071,2	MCF-7	breast:
5	chr17:45959646..45962824-chr17:45972724..45975938,3	K562	blood:
6	chr17:45907369..45910442-chr17:45960677..45964479,4	MCF-7	breast:
7	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
8	chr17:45952271..45953858-chr17:45960670..45962936,2	MCF-7	breast:
9	chr17:45928961..45933138-chr17:45960892..45963467,3	K562	blood:
10	chr17:45922488..45924994-chr17:45961129..45963501,2	MCF-7	breast:
11	chr17:45926244..45929145-chr17:45961186..45965001,5	MCF-7	breast:
12	chr17:45960557..45963296-chr17:46100830..46102768,2	MCF-7	breast:
13	chr17:45960588..45963155-chr17:45965865..45967382,2	MCF-7	breast:
14	chr17:45961070..45963855-chr17:45969315..45972508,3	MCF-7	breast:
15	chr17:45955819..45958170-chr17:45960377..45962855,3	K562	blood:
16	chr17:45926557..45929901-chr17:45961355..45964268,4	MCF-7	breast:
17	chr17:45959973..45962881-chr17:45970750..45975397,6	MCF-7	breast:
18	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
19	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266821	TF binding region
ENSG00000159111	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12452989	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525089	1.00[ASN][1000 genomes]
rs2525099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597167	1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60163848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321625	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321628	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73985445	1.00[ASN][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9890122	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
3	chr17:45958200-45964400	Enhancers	Placenta	Placenta
4	chr17:45958400-45963000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr17:45959000-45963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr17:45959200-45963800	Enhancers	Fetal Thymus	thymus
7	chr17:45959400-45963400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr17:45959600-45962600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:45959600-45963000	Enhancers	Fetal Lung	lung
10	chr17:45959600-45963200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr17:45959600-45963600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr17:45959600-45963600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:45959800-45962600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:45959800-45963200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr17:45959800-45963400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:45959800-45963400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:45960000-45962800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:45960000-45963200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:45960000-45963200	Enhancers	Stomach Mucosa	stomach
20	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
22	chr17:45960200-45962600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr17:45960200-45962600	Weak transcription	HMEC	breast
24	chr17:45960200-45963400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:45960200-45963600	Enhancers	Primary T cells from cord blood	blood
26	chr17:45960200-45964400	Enhancers	Colonic Mucosa	Colon
27	chr17:45960200-45965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:45960400-45963600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:45960400-45972000	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:45960600-45963600	Enhancers	K562	blood
31	chr17:45960800-45963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:45960800-45963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr17:45960800-45963600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:45960800-45963600	Enhancers	Thymus	Thymus
35	chr17:45961200-45962800	Weak transcription	Left Ventricle	heart
36	chr17:45961200-45963400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr17:45961400-45963400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:45961600-45962600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr17:45961600-45963600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:45961800-45962800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr17:45961800-45963000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:45961800-45963000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr17:45961800-45963200	Weak transcription	Small Intestine	intestine
44	chr17:45961800-45963200	Enhancers	Spleen	Spleen
45	chr17:45961800-45963400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr17:45961800-45963400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr17:45961800-45963600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr17:45961800-45963600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:45961800-45963600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:45961800-45963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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