Variant report

Variant	rs5998301
Chromosome Location	chr22:32603341-32603342
allele	C/G
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	CTCF	chr22:32603260-32603410	HAc	cerebellar:	n/a	n/a
2	CTCF	chr22:32603220-32603370	GM12872	blood:	n/a	n/a
3	CTCF	chr22:32603220-32603370	HCM	heart:	n/a	n/a
4	CTCF	chr22:32602823-32603357	A549	lung:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
5	CTCF	chr22:32603220-32603370	HCFaa	heart:	n/a	n/a
6	CTCF	chr22:32602935-32603413	Fibrobl	skin:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
7	CTCF	chr22:32603240-32603390	GM12868	blood:	n/a	n/a
8	CTCF	chr22:32603240-32603390	GM12871	blood:	n/a	n/a
9	CTCF	chr22:32603291-32603417	GM19239	blood:	n/a	n/a
10	CTCF	chr22:32603340-32603490	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr22:32603300-32603450	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr22:32602821-32603365	MCF-7	breast:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
13	CTCF	chr22:32601991-32603467	SK-N-SH	brain:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32602699-32602707 chr22:32603056-32603069
14	CTCF	chr22:32603220-32603370	BJ	skin:	n/a	n/a
15	CTCF	chr22:32603240-32603390	GM12872	blood:	n/a	n/a
16	CTCF	chr22:32602909-32603409	Gliobla	brain:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
17	CTCF	chr22:32603240-32603390	MCF-7	breast:	n/a	n/a
18	CTCF	chr22:32603300-32603450	AG09309	skin:	n/a	n/a
19	CTCF	chr22:32603220-32603370	HCPEpiC	choroid plexus:	n/a	n/a
20	RAD21	chr22:32602732-32603391	HCT-116	colon:	n/a	chr22:32603056-32603070 chr22:32603061-32603070 chr22:32603052-32603071
21	CTCF	chr22:32603220-32603370	K562	blood:	n/a	n/a
22	CTCF	chr22:32603260-32603410	SAEC	small airway:	n/a	n/a
23	CTCF	chr22:32603220-32603370	RPTEC	kidney:	n/a	n/a
24	CTCF	chr22:32603328-32603434	GM12878	blood:	n/a	n/a
25	CTCF	chr22:32603220-32603370	GM12873	blood:	n/a	n/a
26	CTCF	chr22:32603327-32603415	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr22:32603220-32603370	HFF	foreskin:	n/a	n/a
28	CTCF	chr22:32602836-32603363	H1-hESC	embryonic stem cell:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
29	CTCF	chr22:32602902-32603435	GM12891	blood:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
30	CTCF	chr22:32603220-32603370	HEK293	kidney:	n/a	n/a
31	CTCF	chr22:32603340-32603490	NB4	blood:	n/a	n/a
32	CTCF	chr22:32603327-32603432	GM12892	blood:	n/a	n/a
33	CTCF	chr22:32603240-32603390	HMEC	breast:	n/a	n/a
34	CTCF	chr22:32603220-32603370	HBMEC	blood vessel:	n/a	n/a
35	RAD21	chr22:32602785-32603393	H1-hESC	embryonic stem cell:	n/a	chr22:32603056-32603070 chr22:32603061-32603070 chr22:32603052-32603071
36	CTCF	chr22:32602766-32603450	MCF-7	breast:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069
37	RAD21	chr22:32602858-32603342	H1-hESC	embryonic stem cell:	n/a	chr22:32603056-32603070 chr22:32603061-32603070 chr22:32603052-32603071
38	CTCF	chr22:32603220-32603370	GM12864	blood:	n/a	n/a
39	CTCF	chr22:32603300-32603450	WI-38	lung:	n/a	n/a
40	CTCF	chr22:32603220-32603370	MCF-7	breast:	n/a	n/a
41	CTCF	chr22:32603240-32603390	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr22:32603303-32603379	ProgFib	skin:	n/a	n/a
43	CTCF	chr22:32603220-32603370	HMEC	breast:	n/a	n/a
44	CTCF	chr22:32603240-32603390	GM12865	blood:	n/a	n/a
45	CTCF	chr22:32603240-32603390	GM12864	blood:	n/a	n/a
46	CTCF	chr22:32603220-32603370	BE2_C	brain:	n/a	n/a
47	CTCF	chr22:32603321-32603426	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr22:32603220-32603370	GM06990	blood:	n/a	n/a
49	CTCF	chr22:32603320-32603470	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr22:32602915-32603431	GM19238	blood:	n/a	chr22:32603055-32603071 chr22:32603049-32603070 chr22:32603061-32603068 chr22:32603054-32603072 chr22:32603056-32603069

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32586637..32588277-chr22:32602438..32604395,2	K562	blood:
2	22:31936958-31958600..22:32594665-32606395	K562	blood:

Variant related genes	Relation type
RFPL2	TF binding region
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs136445	0.81[EUR][1000 genomes]
rs136485	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136486	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136487	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136488	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136489	0.88[ASN][1000 genomes]
rs2142557	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994491	0.84[ASN][1000 genomes]
rs5994492	0.84[ASN][1000 genomes]
rs5994493	0.84[ASN][1000 genomes]
rs5994494	0.84[ASN][1000 genomes]
rs5994495	0.84[ASN][1000 genomes]
rs5994496	0.84[ASN][1000 genomes]
rs5998292	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998303	0.84[ASN][1000 genomes]
rs9609469	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32598600-32603400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:32600800-32603600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:32600800-32622800	Weak transcription	Right Atrium	heart
4	chr22:32601200-32603400	Enhancers	Liver	Liver
5	chr22:32601200-32605200	Weak transcription	Gastric	stomach
6	chr22:32601600-32603400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr22:32601600-32603400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr22:32601800-32603400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr22:32601800-32604800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:32601800-32608600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:32602200-32603400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr22:32602200-32603800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr22:32602200-32621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:32602400-32603600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:32602400-32605600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:32602400-32606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:32602600-32603400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:32602600-32603600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr22:32602600-32603600	Enhancers	Spleen	Spleen
20	chr22:32602800-32603400	Enhancers	Esophagus	oesophagus
21	chr22:32602800-32603400	Enhancers	Fetal Intestine Small	intestine
22	chr22:32602800-32603400	Enhancers	Pancreas	Pancrea
23	chr22:32602800-32603400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr22:32602800-32603400	Enhancers	Right Ventricle	heart
25	chr22:32602800-32603400	Enhancers	Stomach Mucosa	stomach
26	chr22:32602800-32603400	Enhancers	A549	lung
27	chr22:32602800-32605600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:32603000-32603400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:32603000-32603400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr22:32603000-32603600	Enhancers	Duodenum Mucosa	Duodenum
31	chr22:32603000-32605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:32603200-32603400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:32603200-32603400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:32603200-32603400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr22:32603200-32603400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr22:32603200-32603400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr22:32603200-32603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:32603200-32603400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr22:32603200-32603600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:32603200-32603600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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