Variant report

Variant	rs3889334
Chromosome Location	chr10:49689122-49689123
allele	A/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	NR2F2	chr10:49688856-49689534	K562	blood:	n/a	n/a
2	MAX	chr10:49688828-49689287	K562	blood:	n/a	chr10:49689034-49689044
3	HMGN3	chr10:49688874-49689362	K562	blood:	n/a	chr10:49689123-49689130
4	POLR2A	chr10:49689045-49689356	K562	blood:	n/a	n/a
5	TEAD4	chr10:49688768-49689638	K562	blood:	n/a	n/a
6	MAX	chr10:49688824-49689427	K562	blood:	n/a	chr10:49689034-49689044
7	TBL1XR1	chr10:49688919-49689522	K562	blood:	n/a	n/a
8	BHLHE40	chr10:49688905-49689423	K562	blood:	n/a	chr10:49689144-49689160
9	CEBPD	chr10:49688846-49689366	K562	blood:	n/a	n/a
10	POLR2A	chr10:49688504-49689613	K562	blood:	n/a	n/a
11	EP300	chr10:49688897-49689589	K562	blood:	n/a	n/a
12	ELF1	chr10:49688890-49689230	K562	blood:	n/a	n/a
13	CUX1	chr10:49688738-49689394	K562	blood:	n/a	n/a
14	ZNF143	chr10:49688797-49689174	K562	blood:	n/a	n/a
15	ELK1	chr10:49688960-49689247	K562	blood:	n/a	n/a
16	ARID3A	chr10:49688764-49689166	K562	blood:	n/a	n/a
17	HCFC1	chr10:49688866-49689314	K562	blood:	n/a	n/a
18	HEY1	chr10:49689038-49689345	K562	blood:	n/a	n/a
19	ZMIZ1	chr10:49688956-49689469	K562	blood:	n/a	n/a
20	HDAC2	chr10:49688791-49689299	K562	blood:	n/a	chr10:49689123-49689132
21	GATA1	chr10:49688670-49689550	PBDE	blood:	n/a	chr10:49689113-49689130 chr10:49689122-49689132 chr10:49689122-49689131 chr10:49689124-49689134
22	GATA1	chr10:49688985-49689338	K562	blood:	n/a	chr10:49689113-49689130 chr10:49689122-49689132 chr10:49689122-49689131 chr10:49689124-49689134
23	TAL1	chr10:49688907-49689469	K562	blood:	n/a	chr10:49689113-49689131
24	NR2F2	chr10:49688789-49689337	K562	blood:	n/a	n/a
25	MXI1	chr10:49688970-49689295	K562	blood:	n/a	n/a
26	UBTF	chr10:49688875-49689491	K562	blood:	n/a	n/a
27	RCOR1	chr10:49688739-49689199	K562	blood:	n/a	n/a
28	POLR2A	chr10:49688957-49689301	K562	blood:	n/a	n/a
29	ZNF384	chr10:49689070-49689562	K562	blood:	n/a	n/a
30	CCNT2	chr10:49688872-49689399	K562	blood:	n/a	chr10:49689113-49689133
31	GATA1	chr10:49688889-49689299	PBDEFetal	blood:	n/a	chr10:49689113-49689130 chr10:49689122-49689132 chr10:49689122-49689131 chr10:49689124-49689134
32	GATA2	chr10:49688902-49689491	K562	blood:	n/a	chr10:49689113-49689130 chr10:49689122-49689132 chr10:49689122-49689131 chr10:49689124-49689134
33	MYC	chr10:49688927-49689542	K562	blood:	n/a	chr10:49689034-49689044
34	JUND	chr10:49688895-49689386	K562	blood:	n/a	n/a
35	CHD2	chr10:49689061-49689261	K562	blood:	n/a	n/a
36	MYC	chr10:49688850-49689519	K562	blood:	n/a	chr10:49689034-49689044
37	CBX3	chr10:49688863-49689442	K562	blood:	n/a	n/a
38	IRF1	chr10:49688945-49689669	K562	blood:	n/a	n/a
39	MAZ	chr10:49688864-49689439	K562	blood:	n/a	chr10:49689034-49689044
40	UBTF	chr10:49688932-49689352	K562	blood:	n/a	n/a
41	RCOR1	chr10:49688623-49689584	K562	blood:	n/a	n/a
42	YY1	chr10:49689003-49689405	K562	blood:	n/a	n/a
43	TBL1XR1	chr10:49688913-49689487	K562	blood:	n/a	n/a
44	ZBTB7A	chr10:49688926-49689193	K562	blood:	n/a	n/a
45	YY1	chr10:49688999-49689389	K562	blood:	n/a	n/a
46	POLR2A	chr10:49688805-49689431	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2166224	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2377354	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3888299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3888909	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3896665	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3954044	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61838750	0.95[AMR][1000 genomes];0.95[EUR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49679800-49704200	Weak transcription	NH-A	brain
3	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
4	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:49683400-49689200	Strong transcription	NHLF	lung
6	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
14	chr10:49686400-49690200	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49687400-49694800	Weak transcription	HSMM	muscle
17	chr10:49687600-49689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:49687600-49689400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
20	chr10:49687800-49689400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:49688400-49689400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:49688400-49689600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:49688600-49689200	Enhancers	Fetal Heart	heart
25	chr10:49688600-49689200	Enhancers	Right Atrium	heart
26	chr10:49688600-49689400	Enhancers	Left Ventricle	heart
27	chr10:49688600-49689800	Enhancers	Fetal Intestine Large	intestine
28	chr10:49688600-49690800	Flanking Active TSS	K562	blood
29	chr10:49688600-49693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:49688800-49689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:49688800-49689200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr10:49688800-49689400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:49688800-49699400	Weak transcription	Osteobl	bone
34	chr10:49689000-49689200	Enhancers	Spleen	Spleen
35	chr10:49689000-49689400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:49689000-49689400	Enhancers	Brain Cingulate Gyrus	brain
37	chr10:49689000-49689400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr10:49689000-49689400	Enhancers	Right Ventricle	heart
39	chr10:49689000-49690400	Weak transcription	Muscle Satellite Cultured Cells	--

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