Variant report

Variant	rs3806389
Chromosome Location	chr1:150457606-150457607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:150457460-150457610	AoAF	blood vessel:	n/a	n/a
2	TAL1	chr1:150457293-150457655	K562	blood:	n/a	n/a
3	UBTF	chr1:150457409-150457610	K562	blood:	n/a	n/a
4	CTCF	chr1:150457480-150457630	HPF	lung:	n/a	n/a
5	CTCF	chr1:150457352-150457647	A549	lung:	n/a	n/a
6	CTCF	chr1:150457480-150457630	AG04449	skin:	n/a	n/a
7	CTCF	chr1:150457416-150457646	K562	blood:	n/a	n/a
8	CTCF	chr1:150457464-150457676	SK-N-SH_RA	brain:	n/a	n/a
9	RAD21	chr1:150457406-150457723	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:150457460-150457610	AG10803	skin:	n/a	n/a
11	ZNF143	chr1:150457180-150457674	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:150457480-150457630	HCPEpiC	choroid plexus:	n/a	n/a
13	RCOR1	chr1:150457274-150457738	K562	blood:	n/a	n/a
14	CTCF	chr1:150457385-150457733	K562	blood:	n/a	n/a
15	ZC3H11A	chr1:150457410-150457668	K562	blood:	n/a	n/a
16	CTCF	chr1:150457456-150457621	HepG2	liver:	n/a	n/a
17	RAD21	chr1:150457343-150457689	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr1:150457418-150457672	K562	blood:	n/a	n/a
19	USF2	chr1:150457521-150457646	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:150457429-150457646	A549	lung:	n/a	n/a
21	CTCF	chr1:150457500-150457650	HFF	foreskin:	n/a	n/a
22	ARID3A	chr1:150457375-150457693	HepG2	liver:	n/a	n/a
23	RAD21	chr1:150457263-150457864	A549	lung:	n/a	n/a
24	RAD21	chr1:150457215-150457867	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr1:150457464-150457611	Fibrobl	skin:	n/a	n/a
26	CTCF	chr1:150457422-150457622	HUVEC	blood vessel:	n/a	n/a
27	MAZ	chr1:150457415-150457670	K562	blood:	n/a	n/a
28	CTCF	chr1:150457460-150457610	Caco-2	colon:	n/a	n/a
29	CTCF	chr1:150457438-150457634	MCF-7	breast:	n/a	n/a
30	ZNF143	chr1:150457410-150457662	K562	blood:	n/a	n/a
31	CTCF	chr1:150457196-150458015	A549	lung:	n/a	n/a
32	CTCF	chr1:150457480-150457630	NHLF	lung:	n/a	n/a
33	CTCF	chr1:150457480-150457630	HPAF	blood vessel:	n/a	n/a
34	RAD21	chr1:150457186-150457901	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:150457480-150457630	GM12866	blood:	n/a	n/a
36	CUX1	chr1:150457161-150457731	K562	blood:	n/a	chr1:150457220-150457229 chr1:150457325-150457336
37	CTCF	chr1:150457500-150457650	NB4	blood:	n/a	n/a
38	CTCF	chr1:150457460-150457610	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr1:150457520-150457670	NHEK	skin:	n/a	n/a
40	CTCF	chr1:150457407-150457666	MCF-7	breast:	n/a	n/a
41	MYC	chr1:150457374-150457753	K562	blood:	n/a	n/a
42	CTCF	chr1:150457540-150457690	GM12865	blood:	n/a	n/a
43	CTCF	chr1:150457500-150457650	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr1:150457500-150457650	RPTEC	kidney:	n/a	n/a
45	CTCF	chr1:150457413-150457642	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr1:150457229-150457891	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:150457520-150457670	HCFaa	heart:	n/a	n/a
48	RAD21	chr1:150457340-150457783	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr1:150457480-150457630	HepG2	liver:	n/a	n/a
50	RAD21	chr1:150457302-150457711	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150456469..150460175-chr1:150533144..150536039,5	K562	blood:
2	chr1:150457062..150457965-chr1:150532162..150533099,4	K562	blood:
3	chr1:150455770..150459652-chr1:150544183..150547234,4	K562	blood:
4	chr1:150449439..150451235-chr1:150456085..150459003,2	MCF-7	breast:
5	chr1:150457403..150459497-chr1:150504358..150506324,2	MCF-7	breast:
6	chr1:150457160..150457987-chr1:150504714..150505677,5	MCF-7	breast:
7	chr1:150456503..150458950-chr1:150944893..150946989,2	MCF-7	breast:
8	chr1:150457049..150458010-chr1:150531861..150533447,9	MCF-7	breast:
9	chr1:150455871..150459967-chr1:150528884..150531556,5	MCF-7	breast:
10	chr1:150444025..150446244-chr1:150455724..150457707,2	MCF-7	breast:
11	chr1:150457130..150458050-chr1:150504820..150505453,2	MCF-7	breast:
12	chr1:150457606..150459142-chr1:150550764..150552899,2	MCF-7	breast:
13	chr1:150456995..150457850-chr1:150521206..150522632,4	MCF-7	breast:
14	chr1:150336671..150338475-chr1:150456064..150457881,2	MCF-7	breast:
15	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
16	chr1:150457162..150459509-chr1:150520340..150522663,2	MCF-7	breast:
17	chr1:150455889..150458499-chr1:150458911..150460936,2	K562	blood:
18	chr1:150457058..150457964-chr1:150951784..150952748,2	K562	blood:
19	chr1:150452549..150455037-chr1:150455685..150457629,2	MCF-7	breast:

No data

Variant related genes	Relation type
TARS2	TF binding region
ENSG00000231073	Chromatin interaction
ENSG00000237781	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11810419	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12116970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12129037	0.89[ASN][1000 genomes]
rs12718416	0.96[ASN][1000 genomes]
rs12729719	0.96[ASN][1000 genomes]
rs13057	0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16835699	0.85[ASN][1000 genomes]
rs16835708	0.85[ASN][1000 genomes]
rs16835782	0.88[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs16835791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16835911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836130	0.89[ASN][1000 genomes]
rs16836139	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836576	0.93[ASN][1000 genomes]
rs16836594	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836786	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836940	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1694386	0.84[JPT][hapmap]
rs2015966	0.89[ASN][1000 genomes]
rs2275245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275779	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3737319	0.89[ASN][1000 genomes]
rs3738322	0.83[ASN][1000 genomes]
rs3795702	0.86[CHB][hapmap];1.00[AFR][1000 genomes]
rs3850843	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4926420	0.89[ASN][1000 genomes]
rs4926421	1.00[JPT][hapmap]
rs4926430	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4970925	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4970927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4970946	0.96[ASN][1000 genomes]
rs4970947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4971044	0.88[CHB][hapmap]
rs522068	0.87[ASN][1000 genomes]
rs56882505	0.93[ASN][1000 genomes]
rs56909494	0.93[ASN][1000 genomes]
rs57163995	0.89[ASN][1000 genomes]
rs57263353	1.00[AFR][1000 genomes]
rs57272513	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57361164	0.85[ASN][1000 genomes]
rs57971032	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58419446	0.91[ASN][1000 genomes]
rs58516261	0.89[ASN][1000 genomes]
rs58537074	1.00[AFR][1000 genomes]
rs58585637	1.00[AFR][1000 genomes]
rs59367061	0.93[ASN][1000 genomes]
rs59378360	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59639798	0.93[ASN][1000 genomes]
rs59662772	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60459288	0.93[ASN][1000 genomes]
rs60531845	0.89[ASN][1000 genomes]
rs60730811	0.89[ASN][1000 genomes]
rs60758881	0.87[ASN][1000 genomes]
rs6663989	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs6679726	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6680391	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6700009	0.89[ASN][1000 genomes]
rs6700607	0.85[ASN][1000 genomes]
rs71622690	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73011384	0.85[ASN][1000 genomes]
rs73011400	0.85[ASN][1000 genomes]
rs73013119	0.85[ASN][1000 genomes]
rs73013129	0.89[ASN][1000 genomes]
rs73015063	0.89[ASN][1000 genomes]
rs73015078	0.89[ASN][1000 genomes]
rs73015081	0.89[ASN][1000 genomes]
rs73015095	0.89[ASN][1000 genomes]
rs73015096	0.89[ASN][1000 genomes]
rs73017006	0.89[ASN][1000 genomes]
rs73017073	0.93[ASN][1000 genomes]
rs73017086	0.93[ASN][1000 genomes]
rs73017092	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73017102	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019017	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019018	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019020	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019021	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019027	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019028	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs871527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs953127	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150444800-150459000	Weak transcription	GM12878-XiMat	blood
2	chr1:150445000-150459400	Weak transcription	Fetal Brain Male	brain
3	chr1:150445400-150459400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150445800-150459400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:150445800-150459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:150445800-150459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:150446200-150459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:150446400-150459000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:150446400-150459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:150446400-150459400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:150446400-150459400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:150446400-150459400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:150446600-150459000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:150446600-150459200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:150446800-150459000	Weak transcription	Primary B cells from cord blood	blood
16	chr1:150447200-150459200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:150449600-150459200	Weak transcription	Psoas Muscle	Psoas
18	chr1:150450800-150457800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:150451200-150459400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:150452000-150459200	Weak transcription	Placenta	Placenta
21	chr1:150452000-150459400	Weak transcription	HUVEC	blood vessel
22	chr1:150452600-150459400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:150456800-150458000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:150457000-150457800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:150457000-150457800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:150457000-150457800	Enhancers	Fetal Heart	heart
27	chr1:150457000-150457800	Enhancers	NH-A	brain
28	chr1:150457000-150457800	Enhancers	NHDF-Ad	bronchial
29	chr1:150457000-150458000	Enhancers	HMEC	breast
30	chr1:150457000-150458000	Enhancers	K562	blood
31	chr1:150457000-150458000	Enhancers	NHLF	lung
32	chr1:150457000-150458000	Enhancers	Osteobl	bone
33	chr1:150457000-150458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:150457000-150458200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:150457200-150457800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:150457200-150457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:150457200-150457800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:150457200-150457800	Enhancers	HSMM	muscle
39	chr1:150457200-150457800	Flanking Active TSS	NHEK	skin
40	chr1:150457200-150458000	Enhancers	A549	lung
41	chr1:150457400-150457800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:150457400-150457800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:150457400-150459400	Weak transcription	Esophagus	oesophagus
44	chr1:150457600-150457800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:150457600-150457800	Flanking Active TSS	Hela-S3	cervix
46	chr1:150457600-150458000	Enhancers	Fetal Intestine Large	intestine
47	chr1:150457600-150458000	Flanking Active TSS	HepG2	liver
48	chr1:150457600-150459400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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