Variant report

Variant	rs234367
Chromosome Location	chr19:40475836-40475837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:40475788-40475978	K562	blood:	n/a	n/a
2	POLR2A	chr19:40475827-40477333	GM12878	blood:	n/a	n/a
3	REST	chr19:40475229-40477804	PANC-1	pancreas:	n/a	chr19:40477231-40477245 chr19:40476921-40476930
4	TAF1	chr19:40475645-40476003	K562	blood:	n/a	n/a
5	POLR2A	chr19:40475757-40475956	GM12878	blood:	n/a	n/a
6	CTCF	chr19:40475609-40478477	A549	lung:	n/a	chr19:40476809-40476825 chr19:40476810-40476823 chr19:40476808-40476826
7	POLR2A	chr19:40475696-40477825	K562	blood:	n/a	n/a
8	POLR2A	chr19:40475166-40475858	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:40475604-40476027	K562	blood:	n/a	n/a
10	POLR2A	chr19:40475435-40477555	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr19:40475265-40478680	PANC-1	pancreas:	n/a	n/a
12	NR2F2	chr19:40475438-40476156	K562	blood:	n/a	n/a
13	MYC	chr19:40475803-40477919	A549	lung:	n/a	chr19:40476864-40476871
14	POLR2A	chr19:40472172-40495393	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:40475564-40476138	K562	blood:	n/a	n/a
16	MAX	chr19:40475621-40477832	K562	blood:	n/a	chr19:40476864-40476871
17	ZNF384	chr19:40475601-40476215	K562	blood:	n/a	n/a
18	MAX	chr19:40475402-40477678	A549	lung:	n/a	chr19:40476864-40476871
19	POLR2A	chr19:40475638-40477860	K562	blood:	n/a	n/a
20	NR2F2	chr19:40475483-40476115	K562	blood:	n/a	n/a
21	MYC	chr19:40475813-40477855	K562	blood:	n/a	chr19:40476864-40476871
22	POLR2A	chr19:40475821-40477838	K562	blood:	n/a	n/a
23	HEY1	chr19:40475787-40477858	K562	blood:	n/a	n/a
24	IRF1	chr19:40475827-40477478	K562	blood:	n/a	chr19:40476527-40476536 chr19:40476893-40476907
25	EP300	chr19:40475684-40476007	K562	blood:	n/a	n/a
26	RCOR1	chr19:40475795-40475995	K562	blood:	n/a	n/a
27	SIN3AK20	chr19:40473718-40478635	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40475224..40479165-chr19:40500138..40503908,5	MCF-7	breast:
2	chr19:40324934..40327706-chr19:40474760..40476442,2	K562	blood:
3	chr19:40475779..40479202-chr19:40484390..40487184,3	MCF-7	breast:
4	chr19:40472468..40476413-chr19:40479730..40482224,3	MCF-7	breast:
5	chr19:40471803..40479510-chr19:40500414..40506141,13	K562	blood:
6	chr19:40474074..40479560-chr19:40500872..40505885,15	K562	blood:
7	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
8	chr19:40473843..40476809-chr19:40580140..40582711,2	K562	blood:
9	chr19:40474771..40476679-chr19:40510895..40512826,2	K562	blood:
10	chr19:40475223..40478471-chr19:40501440..40504433,4	MCF-7	breast:
11	chr19:40475627..40477448-chr19:40488528..40491173,2	MCF-7	breast:
12	chr19:40474771..40476909-chr19:40510895..40513738,3	K562	blood:
13	chr19:40471964..40473535-chr19:40475290..40476792,2	K562	blood:
14	chr19:40475179..40477026-chr19:40560831..40562342,2	K562	blood:
15	chr19:40461619..40464271-chr19:40474236..40476089,2	K562	blood:
16	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:

No data

Variant related genes	Relation type
PSMC4	TF binding region
ENSG00000128000	Chromatin interaction
ENSG00000187187	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10421829	1.00[CHB][hapmap]
rs16973959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234329	1.00[CHB][hapmap]
rs234333	0.81[AMR][1000 genomes]
rs234335	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234336	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234337	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234338	1.00[CHB][hapmap]
rs234344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234345	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234351	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234364	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234373	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2531363	1.00[CHB][hapmap]
rs2542325	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2542328	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337796	1.00[CHB][hapmap]
rs376630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378554	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399405	1.00[CHB][hapmap]
rs420413	1.00[CHB][hapmap]
rs512360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58294889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60025633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61413463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249398	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255173	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259136	1.00[CHB][hapmap]
rs7260610	1.00[CHB][hapmap]
rs8113194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
2	chr19:40466200-40476200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:40472800-40476000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:40473000-40476000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:40473000-40476000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:40474000-40476200	Weak transcription	Fetal Kidney	kidney
7	chr19:40474000-40476200	Enhancers	HepG2	liver
8	chr19:40474200-40476200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:40474400-40476000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:40474600-40476000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:40474800-40476200	Enhancers	Primary B cells from cord blood	blood
12	chr19:40474800-40476200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:40474800-40476200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:40474800-40476200	Enhancers	Esophagus	oesophagus
15	chr19:40474800-40476200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr19:40475000-40476000	Enhancers	HMEC	breast
17	chr19:40475000-40476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40475000-40476200	Weak transcription	Colonic Mucosa	Colon
19	chr19:40475000-40476400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:40475200-40476000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:40475200-40476000	Enhancers	Brain Hippocampus Middle	brain
22	chr19:40475200-40476200	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:40475200-40476200	Enhancers	Adipose Nuclei	Adipose
24	chr19:40475200-40476200	Enhancers	Fetal Thymus	thymus
25	chr19:40475200-40476200	Enhancers	Stomach Mucosa	stomach
26	chr19:40475200-40476600	Flanking Active TSS	Dnd41	blood
27	chr19:40475400-40476000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:40475400-40476000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:40475400-40476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:40475400-40476000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr19:40475400-40476000	Enhancers	Liver	Liver
32	chr19:40475400-40476000	Enhancers	Brain Substantia Nigra	brain
33	chr19:40475400-40476000	Enhancers	Fetal Intestine Large	intestine
34	chr19:40475400-40476000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr19:40475400-40476200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:40475400-40476200	Enhancers	Fetal Intestine Small	intestine
37	chr19:40475400-40476200	Enhancers	Fetal Muscle Leg	muscle
38	chr19:40475400-40476200	Enhancers	Pancreas	Pancrea
39	chr19:40475400-40476400	Flanking Active TSS	Hela-S3	cervix
40	chr19:40475600-40476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:40475600-40476000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:40475600-40476000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:40475600-40476000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:40475600-40476000	Enhancers	Brain Anterior Caudate	brain
45	chr19:40475600-40476000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr19:40475600-40476000	Enhancers	Thymus	Thymus
47	chr19:40475600-40476000	Enhancers	NHDF-Ad	bronchial
48	chr19:40475600-40476200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr19:40475600-40476200	Enhancers	Fetal Muscle Trunk	muscle
50	chr19:40475600-40476200	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links