Variant report

Variant	rs61138259
Chromosome Location	chr22:32782555-32782556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32782067-32782835	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:32780745-32782812	K562	blood:	n/a	n/a
3	POLR2A	chr22:32782498-32782875	HL-60	blood:	n/a	n/a
4	POLR2A	chr22:32781349-32782753	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:32782504-32782809	K562	blood:	n/a	n/a
6	POLR2A	chr22:32781104-32782956	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:32782007-32782615	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:32782537-32782740	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:32781188-32782796	GM12891	blood:	n/a	n/a
10	POLR2A	chr22:32782531-32782757	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:32781242-32782808	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr22:32782362-32782838	GM12891	blood:	n/a	n/a
13	POLR2A	chr22:32782537-32782622	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr22:32782538-32782659	MCF-7	breast:	n/a	n/a
15	POLR2A	chr22:32782083-32782850	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32782367-32782914	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	chr22:32777217..32780034-chr22:32781911..32784501,3	K562	blood:
5	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
6	22:32360288-32405313..22:32764253-32784733	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232218	TF binding region
RFPL3S	TF binding region
ENSG00000234479	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11089558	1.00[EUR][1000 genomes]
rs11912086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11912716	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11914186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12159901	1.00[EUR][1000 genomes]
rs16990370	0.94[AFR][1000 genomes]
rs28702904	1.00[EUR][1000 genomes]
rs58900751	1.00[EUR][1000 genomes]
rs59625475	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994545	1.00[EUR][1000 genomes]
rs5994546	1.00[EUR][1000 genomes]
rs5994548	1.00[EUR][1000 genomes]
rs5998426	1.00[EUR][1000 genomes]
rs60043294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289771	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621429	1.00[EUR][1000 genomes]
rs9621433	1.00[EUR][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	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
2	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
3	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
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
2	chr22:32775000-32783400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32775200-32782600	Weak transcription	Right Ventricle	heart
4	chr22:32775200-32783200	Weak transcription	HepG2	liver
5	chr22:32775400-32783000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:32775400-32783400	Weak transcription	K562	blood
7	chr22:32775600-32783400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:32777200-32793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:32779800-32783400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:32780000-32782600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr22:32780000-32783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:32780000-32783400	Weak transcription	HSMMtube	muscle
13	chr22:32780000-32790400	Weak transcription	Fetal Brain Male	brain
14	chr22:32780200-32783400	Weak transcription	HSMM	muscle
15	chr22:32780600-32783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:32780800-32783200	Weak transcription	Small Intestine	intestine
17	chr22:32780800-32784200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:32780800-32789000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:32781000-32783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:32781200-32785200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr22:32781200-32787000	Strong transcription	Primary T cells from cord blood	blood
24	chr22:32781200-32793600	Strong transcription	Fetal Kidney	kidney
25	chr22:32781200-32798200	Strong transcription	Thymus	Thymus
26	chr22:32781200-32799200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:32781200-32801200	Strong transcription	Fetal Stomach	stomach
28	chr22:32781200-32802200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:32781200-32803200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr22:32781200-32804000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:32781200-32804200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr22:32781200-32804600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:32781200-32804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:32781200-32804800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
37	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:32781400-32782600	Strong transcription	Colon Smooth Muscle	Colon
39	chr22:32781400-32783200	Weak transcription	Hela-S3	cervix
40	chr22:32781400-32785200	Strong transcription	NHEK	skin
41	chr22:32781400-32785800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr22:32781400-32786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:32781400-32786200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr22:32781400-32786200	Strong transcription	Gastric	stomach
45	chr22:32781400-32786600	Strong transcription	Brain Germinal Matrix	brain
46	chr22:32781400-32786600	Strong transcription	A549	lung
47	chr22:32781400-32787400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr22:32781400-32787400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:32781400-32787400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:32781400-32793000	Strong transcription	Fetal Intestine Small	intestine

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