Variant report

Variant	rs17821102
Chromosome Location	chr22:31847850-31847851
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	chr22:31847741-31847951	GM19239	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
2	CTCF	chr22:31847790-31847966	GM13977	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
3	CTCF	chr22:31847800-31847950	SK-N-SH_RA	brain:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
4	CTCF	chr22:31847820-31847970	BJ	skin:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
5	CTCF	chr22:31847795-31847966	GM13976	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
6	CTCF	chr22:31847820-31847970	GM12878	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
7	CTCF	chr22:31847725-31847989	Gliobla	brain:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
8	CTCF	chr22:31847810-31847988	Pancreas_OC	pancreas:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
9	CTCF	chr22:31847710-31847951	H1-hESC	embryonic stem cell:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
10	CTCF	chr22:31847820-31847970	HCM	heart:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
11	RAD21	chr22:31847773-31848014	SK-N-SH_RA	brain:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
12	CTCF	chr22:31847843-31847910	GM20000	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
13	CTCF	chr22:31847800-31847950	AG04450	lung:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
14	CTCF	chr22:31847800-31847950	AG04449	skin:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
15	CTCF	chr22:31847800-31847950	HBMEC	blood vessel:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
16	CTCF	chr22:31847800-31847950	Hela-S3	cervix:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
17	CTCF	chr22:31847820-31847970	HPF	lung:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
18	GABPA	chr22:31847714-31847992	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr22:31847820-31847970	HCPEpiC	choroid plexus:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
20	CTCF	chr22:31847744-31847950	HepG2	liver:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
21	RAD21	chr22:31847722-31848074	H1-hESC	embryonic stem cell:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
22	CTCF	chr22:31847800-31847950	GM12869	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
23	CTCF	chr22:31847780-31847930	HMEC	breast:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
24	RAD21	chr22:31847818-31848017	A549	lung:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
25	CTCF	chr22:31847820-31847970	HEEpiC	esophagus:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
26	RAD21	chr22:31847690-31848019	MCF-7	breast:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
27	CTCF	chr22:31847751-31847974	ProgFib	skin:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
28	CTCF	chr22:31847800-31847950	GM12864	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
29	RAD21	chr22:31847693-31848076	SK-N-SH_RA	brain:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
30	CTCF	chr22:31847820-31847970	HUVEC	blood vessel:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
31	CTCF	chr22:31847800-31847950	HUVEC	blood vessel:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
32	CTCF	chr22:31847780-31847930	Caco-2	colon:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
33	CTCF	chr22:31847760-31847910	HFF	foreskin:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
34	CTCF	chr22:31847707-31848076	IMR90	lung:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
35	CTCF	chr22:31847800-31847950	GM12865	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
36	CTCF	chr22:31847840-31847990	GM12871	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
37	RAD21	chr22:31847729-31848067	GM12878	blood:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
38	CTCF	chr22:31847820-31847970	NB4	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
39	CTCF	chr22:31847777-31847975	Hela-S3	cervix:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
40	CTCF	chr22:31847800-31847950	HepG2	liver:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
41	CTCF	chr22:31847800-31847950	HPAF	blood vessel:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
42	YY1	chr22:31847636-31847883	GM12878	blood:	n/a	n/a
43	CTCF	chr22:31847800-31847950	HMEC	breast:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
44	SMC3	chr22:31847709-31848094	GM12878	blood:	n/a	chr22:31847884-31847898
45	CTCF	chr22:31847780-31847930	GM12871	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
46	WRNIP1	chr22:31847808-31847928	GM12878	blood:	n/a	n/a
47	CTCF	chr22:31847760-31847910	GM12873	blood:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
48	RAD21	chr22:31847733-31848039	HepG2	liver:	n/a	chr22:31847885-31847892 chr22:31847883-31847902
49	CTCF	chr22:31847766-31848020	LNCaP	prostate:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899
50	CTCF	chr22:31847755-31848005	HepG2	liver:	n/a	chr22:31847884-31847905 chr22:31847882-31847900 chr22:31847885-31847898 chr22:31847887-31847895 chr22:31847883-31847899

No.	Distal block	Cell Line	Cell type
1	chr22:31847213..31849082-chr22:31849317..31851160,2	K562	blood:
2	chr22:31847674..31848482-chr22:31892087..31892811,2	MCF-7	breast:
3	chr22:31844458..31846488-chr22:31846838..31850631,3	K562	blood:
4	chr22:31847385..31848306-chr22:32029522..32030382,2	MCF-7	breast:
5	chr22:31373202..31375614-chr22:31847172..31848695,2	K562	blood:

Variant related genes	Relation type
EIF4ENIF1	TF binding region
ENSG00000240591	TF binding region
ENSG00000269972	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000269987	Chromatin interaction
ENSG00000240591	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11089512	0.90[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11089514	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11089515	0.82[AMR][1000 genomes]
rs12170867	0.90[AFR][1000 genomes]
rs12485048	1.00[CEU][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes]
rs2024747	0.86[CHB][hapmap];0.90[AFR][1000 genomes]
rs3818134	0.82[CHB][hapmap]
rs4820979	0.86[CHB][hapmap]
rs4820980	0.86[CHB][hapmap]
rs5749278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749293	0.82[CHB][hapmap];0.90[AFR][1000 genomes]
rs5749301	0.86[AMR][1000 genomes]
rs5749303	0.88[CEU][hapmap];0.90[AFR][1000 genomes]
rs5753620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753635	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753647	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5753650	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5753657	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs5753667	0.90[CHB][hapmap]
rs5753677	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs5753681	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs59285943	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61675151	0.90[EUR][1000 genomes]
rs738656	0.82[CHB][hapmap]
rs9621269	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active 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	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
4	chr22:31815000-31868200	Strong transcription	Dnd41	blood
5	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31822400-31859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:31829600-31852000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr22:31831200-31850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
12	chr22:31836800-31853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:31838200-31859000	Weak transcription	Hela-S3	cervix
14	chr22:31838400-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:31838600-31854400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31839200-31850000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31840800-31857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:31841200-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:31841400-31848200	Weak transcription	NH-A	brain
20	chr22:31841400-31850200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:31842200-31848400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr22:31842600-31848000	Weak transcription	NHDF-Ad	bronchial
23	chr22:31842600-31848200	Weak transcription	K562	blood
24	chr22:31843000-31850000	Weak transcription	HepG2	liver
25	chr22:31843000-31851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:31843400-31849000	Weak transcription	HMEC	breast
27	chr22:31843600-31848200	Weak transcription	HUVEC	blood vessel
28	chr22:31843600-31849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr22:31843600-31850000	Weak transcription	Small Intestine	intestine
30	chr22:31843800-31849200	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:31844000-31849400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:31844200-31849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:31844400-31848200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:31844400-31848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:31844400-31849800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:31844400-31850000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr22:31844400-31850000	Weak transcription	Brain Angular Gyrus	brain
38	chr22:31844400-31850000	Weak transcription	Esophagus	oesophagus
39	chr22:31844400-31850000	Weak transcription	Pancreas	Pancrea
40	chr22:31844600-31848200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:31844600-31848200	Weak transcription	Fetal Brain Female	brain
42	chr22:31844600-31848400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:31844600-31848800	Weak transcription	Fetal Kidney	kidney
44	chr22:31844600-31848800	Weak transcription	Ovary	ovary
45	chr22:31844600-31848800	Weak transcription	Thymus	Thymus
46	chr22:31844600-31849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:31844600-31849400	Weak transcription	Fetal Lung	lung
48	chr22:31844600-31849400	Weak transcription	Gastric	stomach
49	chr22:31844600-31849600	Weak transcription	NHEK	skin
50	chr22:31844600-31849800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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