Variant report

Variant	rs5751591
Chromosome Location	chr22:23489042-23489043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr22:23486603-23489476	K562	blood:	n/a	n/a
2	STAT5A	chr22:23488704-23489441	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23489041-23489091	SKMC	muscle:	n/a
2	chr22:23489041-23489091	A549	lung:	n/a
3	chr22:23489041-23489091	NHBE	bronchial:	n/a
4	chr22:23489041-23489091	HRE	kidney:	n/a
5	chr22:23489041-23489091	CMK	blood:	n/a
6	chr22:23489041-23489091	HNPCEpiC	eye:	n/a
7	chr22:23489041-23489091	GM06990	blood:	n/a
8	chr22:23489041-23489091	GM12892	blood:	n/a
9	chr22:23489041-23489091	PrEC	prostate:	n/a
10	chr22:23489041-23489091	ECC-1	luminal epithelium:	n/a
11	chr22:23489041-23489091	AG04450	lung:	fetal
12	chr22:23489041-23489091	HRPEpiC	eye:	n/a
13	chr22:23489041-23489091	HL-60	blood:	n/a
14	chr22:23489041-23489091	PANC-1	pancreas:	n/a
15	chr22:23489041-23489091	LNCaP	prostate:	n/a
16	chr22:23489041-23489091	HepG2	liver:	n/a
17	chr22:23489041-23489091	GM19239	blood:	n/a
18	chr22:23489041-23489091	H1-hESC	embryonic stem cell:	embryo
19	chr22:23489041-23489091	HMEC	breast:	n/a
20	chr22:23489041-23489091	Caco-2	colon:	n/a
21	chr22:23489041-23489091	SK-N-SH_RA	brain:	n/a
22	chr22:23489041-23489091	AG04449	skin:	fetal
23	chr22:23489041-23489091	HCT-116	colon:	n/a
24	chr22:23489041-23489091	NB4	blood:	n/a
25	chr22:23489041-23489091	BE2_C	brain:	n/a
26	chr22:23489041-23489091	BJ	skin:	n/a
27	chr22:23489041-23489091	RPTEC	kidney:	n/a
28	chr22:23489041-23489091	HEEpiC	esophagus:	n/a
29	chr22:23489041-23489091	HUVEC	blood vessel:	n/a
30	chr22:23489041-23489091	Hela-S3	cervix:	n/a
31	chr22:23489041-23489091	ProgFib	skin:	n/a
32	chr22:23489041-23489091	HRCEpiC	kidney:	n/a
33	chr22:23489041-23489091	HPAEpiC	pulmonary alveolar:	n/a
34	chr22:23489041-23489091	SK-N-MC	brain:	n/a
35	chr22:23489041-23489091	Jurkat	blood:	n/a
36	chr22:23489041-23489091	ovcar-3	ovarian:	n/a
37	chr22:23489041-23489091	GM12878	blood:	n/a
38	chr22:23489041-23489091	HCPEpiC	choroid plexus:	n/a
39	chr22:23489041-23489091	NT2-D1	testis:	n/a
40	chr22:23489041-23489091	AG09319	gingival:	n/a
41	chr22:23489041-23489091	MCF-7	breast:	n/a
42	chr22:23489041-23489091	HCM	heart:	n/a
43	chr22:23489041-23489091	HAEpiC	amniotic membrane:	n/a
44	chr22:23489041-23489091	IMR90	lung:	fetal
45	chr22:23489041-23489091	HCF	heart:	n/a
46	chr22:23489041-23489091	AG10803	skin:	n/a
47	chr22:23489041-23489091	AoSMC	blood vessel:	n/a
48	chr22:23489041-23489091	Hepatocyte	liver:	n/a
49	chr22:23489041-23489091	T-47D	breast:	n/a
50	chr22:23489041-23489091	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23486968..23489257-chr9:133803700..133806621,2	K562	blood:
2	chr20:52238455..52240953-chr22:23487999..23490190,2	MCF-7	breast:
3	chr22:23488142..23489912-chr22:23520735..23522440,2	MCF-7	breast:
4	chr22:19159140..19161731-chr22:23487977..23489996,2	K562	blood:
5	chr22:23487601..23489180-chr22:23514831..23516352,2	MCF-7	breast:

No data

Variant related genes	Relation type
RTDR1	TF binding region
RAB36	TF binding region
RAB36	CpG island
RTDR1	CpG island
ENSG00000130720	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs5759602	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs756632	1.00[JPT][hapmap]
rs9612246	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
3	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
4	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
17	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
18	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
19	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
20	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
23	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
26	nsv544616	chr22:23474827-23495231	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	esv1808801	chr22:23478573-23489042	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
28	esv1812488	chr22:23478573-23489042	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
29	esv1801510	chr22:23478611-23491000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5751591	CRYBB2	cis	cerebellum	SCAN
rs5751591	BCR	Cis_1M	lymphoblastoid	RTeQTL
rs5751591	BCR///FLJ42953///LOC644165///LOC728468	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23487400-23489200	Weak transcription	Liver	Liver
2	chr22:23487800-23490200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:23487800-23499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:23488000-23489200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:23488000-23489600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr22:23488000-23489600	Weak transcription	Esophagus	oesophagus
7	chr22:23488000-23490200	Weak transcription	Gastric	stomach
8	chr22:23488000-23491000	Enhancers	HepG2	liver
9	chr22:23488000-23499400	Weak transcription	Right Ventricle	heart
10	chr22:23488200-23489200	Enhancers	Fetal Kidney	kidney
11	chr22:23488200-23489200	Enhancers	Fetal Muscle Leg	muscle
12	chr22:23488200-23489800	Weak transcription	Stomach Mucosa	stomach
13	chr22:23488200-23490400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr22:23488200-23490600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:23488200-23491400	Enhancers	Pancreas	Pancrea
16	chr22:23488200-23491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:23488200-23492800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr22:23488200-23492800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr22:23488200-23494600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:23488200-23505800	Weak transcription	HSMMtube	muscle
21	chr22:23488400-23489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:23488400-23489200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:23488400-23489400	Weak transcription	Fetal Lung	lung
24	chr22:23488400-23489800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr22:23488400-23490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:23488400-23490000	Weak transcription	Fetal Thymus	thymus
27	chr22:23488400-23490000	Enhancers	NH-A	brain
28	chr22:23488400-23490200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:23488400-23490400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:23488400-23490400	Enhancers	Osteobl	bone
31	chr22:23488400-23490600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:23488400-23490600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:23488400-23490800	Enhancers	Placenta	Placenta
34	chr22:23488400-23491800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:23488400-23491800	Weak transcription	Fetal Intestine Small	intestine
36	chr22:23488400-23491800	Weak transcription	Ovary	ovary
37	chr22:23488400-23492000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:23488400-23492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:23488400-23493200	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:23488400-23493400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr22:23488400-23493400	Weak transcription	Fetal Brain Female	brain
42	chr22:23488400-23494800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr22:23488400-23495000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:23488400-23499000	Weak transcription	Colonic Mucosa	Colon
45	chr22:23488400-23499000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:23488400-23499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:23488400-23505800	Weak transcription	Brain Substantia Nigra	brain
48	chr22:23488600-23489200	Enhancers	Brain Angular Gyrus	brain
49	chr22:23488600-23489200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:23488600-23489400	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links