Variant report

Variant	rs4838380
Chromosome Location	chr10:50507818-50507819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50506647-50509010	K562	blood:	n/a	n/a
2	HEY1	chr10:50506923-50509008	K562	blood:	n/a	n/a
3	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
4	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
5	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
6	HCFC1	chr10:50506971-50509100	K562	blood:	n/a	n/a
7	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
8	EP300	chr10:50506285-50508997	K562	blood:	n/a	n/a
9	TBL1XR1	chr10:50506821-50509004	K562	blood:	n/a	n/a
10	POLR2A	chr10:50506948-50509008	K562	blood:	n/a	n/a
11	CUX1	chr10:50506966-50509165	K562	blood:	n/a	n/a
12	GTF2F1	chr10:50506825-50508897	K562	blood:	n/a	n/a
13	PAX5	chr10:50507724-50508506	GM12878	blood:	n/a	chr10:50508047-50508065
14	POLR2A	chr10:50506692-50508387	K562	blood:	n/a	n/a
15	MAZ	chr10:50507630-50508389	GM12878	blood:	n/a	n/a
16	ZNF143	chr10:50507517-50507846	K562	blood:	n/a	n/a
17	MXI1	chr10:50507611-50508910	K562	blood:	n/a	n/a
18	MXI1	chr10:50507805-50508819	GM12878	blood:	n/a	n/a
19	RAD21	chr10:50507440-50509485	SK-N-SH	brain:	n/a	chr10:50509161-50509180
20	NR2F2	chr10:50507794-50509266	K562	blood:	n/a	n/a
21	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
22	POLR2A	chr10:50507461-50508527	Raji	blood:	n/a	n/a
23	ZNF384	chr10:50507462-50509064	K562	blood:	n/a	n/a
24	POLR2A	chr10:50506790-50509104	K562	blood:	n/a	n/a
25	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
26	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
27	MXI1	chr10:50507529-50509166	SK-N-SH	brain:	n/a	n/a
28	MYC	chr10:50506956-50509142	K562	blood:	n/a	n/a
29	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
30	HEY1	chr10:50506977-50508490	K562	blood:	n/a	n/a
31	CCNT2	chr10:50507373-50509112	K562	blood:	n/a	n/a
32	E2F6	chr10:50507019-50508094	K562	blood:	n/a	n/a
33	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
34	MAFK	chr10:50507034-50508977	K562	blood:	n/a	n/a
35	WRNIP1	chr10:50507810-50508110	GM12878	blood:	n/a	n/a
36	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
37	RUNX3	chr10:50507782-50508536	GM12878	blood:	n/a	chr10:50508287-50508302
38	POLR2A	chr10:50507003-50509021	K562	blood:	n/a	n/a
39	IRF1	chr10:50506989-50508998	K562	blood:	n/a	chr10:50508076-50508090
40	MYC	chr10:50506958-50509161	K562	blood:	n/a	n/a
41	PAX5	chr10:50507794-50508228	GM12878	blood:	n/a	chr10:50508047-50508065
42	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
43	YY1	chr10:50507393-50507821	K562	blood:	n/a	n/a
44	HMGN3	chr10:50507130-50509019	K562	blood:	n/a	n/a
45	CHD2	chr10:50507647-50507837	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:50506604-50509034	K562	blood:	n/a	n/a
47	JUND	chr10:50506718-50509266	K562	blood:	n/a	chr10:50507930-50507940
48	POLR2A	chr10:50506519-50509075	K562	blood:	n/a	n/a
49	EP300	chr10:50507055-50509765	SK-N-SH	brain:	n/a	n/a
50	RCOR1	chr10:50507129-50507835	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
3	chr10:50451424..50453022-chr10:50507349..50510137,2	K562	blood:
4	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
5	chr10:50374066..50375952-chr10:50506772..50508302,2	K562	blood:

No data

Variant related genes	Relation type
C10orf71-AS1	TF binding region
ENSG00000204161	Chromatin interaction
ENSG00000128805	Chromatin interaction
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10745258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10776549	1.00[EUR][1000 genomes]
rs10776552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10776556	1.00[AMR][1000 genomes]
rs10776559	1.00[EUR][1000 genomes]
rs10776564	1.00[EUR][1000 genomes]
rs10857457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10857459	1.00[EUR][1000 genomes]
rs2377945	1.00[EUR][1000 genomes]
rs2377947	1.00[EUR][1000 genomes]
rs2377967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2889795	1.00[EUR][1000 genomes]
rs2889796	1.00[EUR][1000 genomes]
rs4012230	1.00[EUR][1000 genomes]
rs4012231	1.00[EUR][1000 genomes]
rs4240502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4641382	1.00[EUR][1000 genomes]
rs4838374	1.00[EUR][1000 genomes]
rs4838382	1.00[EUR][1000 genomes]
rs4838471	1.00[EUR][1000 genomes]
rs4838477	1.00[EUR][1000 genomes]
rs4838478	1.00[EUR][1000 genomes]
rs4838488	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838508	1.00[EUR][1000 genomes]
rs4838509	1.00[EUR][1000 genomes]
rs6537511	1.00[EUR][1000 genomes]
rs6537531	1.00[EUR][1000 genomes]
rs7068929	1.00[EUR][1000 genomes]
rs7076165	1.00[EUR][1000 genomes]
rs7078936	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7080495	1.00[EUR][1000 genomes]
rs7082469	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7084819	1.00[EUR][1000 genomes]
rs7085282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7088113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7094465	1.00[EUR][1000 genomes]
rs7094900	1.00[EUR][1000 genomes]
rs7095890	1.00[EUR][1000 genomes]
rs7099166	1.00[EUR][1000 genomes]
rs74130904	1.00[EUR][1000 genomes]
rs74133121	1.00[EUR][1000 genomes]
rs74133124	1.00[EUR][1000 genomes]
rs7893653	1.00[EUR][1000 genomes]
rs7896694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7902727	1.00[EUR][1000 genomes]
rs7910727	1.00[EUR][1000 genomes]
rs7917742	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7923632	1.00[EUR][1000 genomes]
rs9663345	1.00[EUR][1000 genomes]
rs9665575	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr10:50505800-50509600	Flanking Active TSS	K562	blood
7	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
8	chr10:50506600-50508600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:50506600-50509200	Enhancers	Primary B cells from peripheral blood	blood
10	chr10:50506600-50509200	Enhancers	Fetal Stomach	stomach
11	chr10:50506800-50508000	Active TSS	Fetal Heart	heart
12	chr10:50506800-50508600	Active TSS	Psoas Muscle	Psoas
13	chr10:50506800-50509200	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:50507000-50509200	Enhancers	GM12878-XiMat	blood
15	chr10:50507200-50508000	Enhancers	Colonic Mucosa	Colon
16	chr10:50507200-50508000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr10:50507200-50509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50507200-50509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:50507200-50511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:50507200-50511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:50507400-50508000	Flanking Active TSS	Left Ventricle	heart
22	chr10:50507400-50508000	Flanking Active TSS	Pancreas	Pancrea
23	chr10:50507400-50508000	Flanking Active TSS	Right Ventricle	heart
24	chr10:50507400-50508000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr10:50507400-50508000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr10:50507400-50508000	Enhancers	Spleen	Spleen
27	chr10:50507400-50508000	Enhancers	HSMM	muscle
28	chr10:50507400-50508600	Enhancers	Primary B cells from cord blood	blood
29	chr10:50507400-50509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:50507400-50513800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr10:50507600-50508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:50507600-50508800	Enhancers	Brain Germinal Matrix	brain
33	chr10:50507600-50509000	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:50507600-50509800	Enhancers	Placenta	Placenta
35	chr10:50507600-50511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:50507800-50508000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:50507800-50508000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr10:50507800-50508000	Enhancers	Lung	lung
39	chr10:50507800-50508600	Active TSS	Right Atrium	heart
40	chr10:50507800-50508800	Weak transcription	Adipose Nuclei	Adipose
41	chr10:50507800-50508800	Enhancers	Duodenum Mucosa	Duodenum
42	chr10:50507800-50509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:50507800-50511800	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links