Variant report

Variant	rs67717154
Chromosome Location	chr1:221886816-221886817
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	STAT5A	chr1:221886376-221886903	GM12878	blood:	n/a	n/a
2	MXI1	chr1:221885570-221887145	GM12878	blood:	n/a	n/a
3	MEF2A	chr1:221886438-221886908	GM12878	blood:	n/a	chr1:221886778-221886792 chr1:221886805-221886816 chr1:221886799-221886820
4	NFIC	chr1:221886326-221886983	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr1:221886176-221886849	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:221886096-221886976	GM12878	blood:	n/a	chr1:221886673-221886690
7	CHD2	chr1:221886277-221886936	GM12878	blood:	n/a	n/a
8	SPI1	chr1:221886469-221886853	HL-60	blood:	n/a	n/a
9	ATF2	chr1:221886378-221886930	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:221885483-221886855	GM12878	blood:	n/a	n/a
11	POU2F2	chr1:221886330-221886885	GM12878	blood:	n/a	chr1:221886807-221886829
12	MYC	chr1:221886188-221886837	NB4	blood:	n/a	n/a
13	FOXM1	chr1:221886383-221886887	GM12878	blood:	n/a	n/a
14	CHD1	chr1:221886352-221886820	GM12878	blood:	n/a	n/a
15	SPI1	chr1:221886360-221886895	HL-60	blood:	n/a	n/a
16	EP300	chr1:221886431-221886895	GM12878	blood:	n/a	n/a
17	MTA3	chr1:221886104-221886834	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:221886328-221886955	HL-60	blood:	n/a	n/a
19	EP300	chr1:221886543-221886944	GM12878	blood:	n/a	n/a
20	NFIC	chr1:221885427-221887011	GM12878	blood:	n/a	n/a
21	EP300	chr1:221885474-221886958	GM12878	blood:	n/a	n/a
22	TBP	chr1:221886316-221886826	GM12878	blood:	n/a	n/a
23	RUNX3	chr1:221886197-221886939	GM12878	blood:	n/a	chr1:221886673-221886690
24	POLR2A	chr1:221885201-221889107	K562	blood:	n/a	n/a
25	POLR2A	chr1:221886268-221886841	GM12892	blood:	n/a	n/a
26	NFATC1	chr1:221886102-221886938	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:221886295-221886819	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:221886147-221886818	GM12878	blood:	n/a	n/a
29	ZNF384	chr1:221885664-221886911	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:221886433-221886842	GM12878	blood:	n/a	n/a
31	MAZ	chr1:221886345-221886829	GM12878	blood:	n/a	n/a
32	SP1	chr1:221886433-221886894	GM12878	blood:	n/a	n/a
33	MEF2A	chr1:221886341-221886866	GM12878	blood:	n/a	chr1:221886778-221886792 chr1:221886805-221886816 chr1:221886799-221886820
34	BCLAF1	chr1:221886318-221886968	GM12878	blood:	n/a	n/a
35	SP1	chr1:221886327-221886860	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221863269..221865954-chr1:221885528..221887146,2	K562	blood:
2	chr1:221886064..221888475-chr1:221888570..221891136,3	K562	blood:
3	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
4	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11118831	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11118834	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541733	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
3	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
4	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
6	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
7	chr1:221879800-221887000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
10	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:221880200-221889200	Weak transcription	Right Atrium	heart
15	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:221880800-221887600	Enhancers	Liver	Liver
17	chr1:221881000-221888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:221881400-221887400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:221881400-221888200	Enhancers	HepG2	liver
20	chr1:221881800-221888600	Weak transcription	Placenta	Placenta
21	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:221882800-221887600	Weak transcription	Lung	lung
23	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
24	chr1:221883000-221888600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:221883000-221888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:221883000-221889600	Weak transcription	Right Ventricle	heart
27	chr1:221883200-221887600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:221883400-221889600	Weak transcription	Left Ventricle	heart
29	chr1:221883600-221887800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:221883800-221890000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:221884000-221887200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:221884200-221889000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:221884400-221888000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:221884600-221887200	Enhancers	Thymus	Thymus
35	chr1:221884600-221888800	Weak transcription	Brain Germinal Matrix	brain
36	chr1:221884600-221891600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:221884800-221887000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:221884800-221887600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:221884800-221888000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:221885000-221887800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:221885200-221887800	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:221885200-221888800	Weak transcription	Fetal Brain Female	brain
44	chr1:221885400-221887400	Flanking Active TSS	GM12878-XiMat	blood
45	chr1:221885400-221888600	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:221885600-221887400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:221885800-221887400	Enhancers	Primary B cells from cord blood	blood
48	chr1:221885800-221887800	Weak transcription	Fetal Stomach	stomach
49	chr1:221885800-221892200	Enhancers	NHDF-Ad	bronchial
50	chr1:221886000-221888600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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