Variant report

Variant	rs859010
Chromosome Location	chr1:158150179-158150180
allele	A/T
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	FOS	chr1:158150033-158150202	MCF10A-Er-Src	breast:	n/a	chr1:158150096-158150107 chr1:158150090-158150098 chr1:158150089-158150099 chr1:158150088-158150100
2	ZNF263	chr1:158149957-158151347	HEK293-T-REx	kidney:	n/a	n/a
3	SIN3A	chr1:158150172-158151486	H1-hESC	embryonic stem cell:	n/a	chr1:158150984-158150995 chr1:158151194-158151207
4	FOS	chr1:158149889-158150248	MCF10A-Er-Src	breast:	n/a	chr1:158150096-158150107 chr1:158150090-158150098 chr1:158150089-158150099 chr1:158150088-158150100
5	KAP1	chr1:158150127-158151579	HEK293	kidney:	n/a	n/a
6	CHD2	chr1:158150026-158150457	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr1:158150157-158150310	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:158150100-158150250	GM12864	blood:	n/a	n/a
9	POLR2A	chr1:158148912-158153430	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158149755..158153217-chr1:158153415..158155911,3	K562	blood:

Variant related genes	Relation type
ELL2P1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10489821	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10489823	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12040592	0.90[CEU][hapmap]
rs12723141	0.90[JPT][hapmap]
rs1570699	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1633141	0.91[CEU][hapmap]
rs1633149	0.91[CEU][hapmap]
rs16839951	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16840031	0.85[JPT][hapmap]
rs16840041	0.85[JPT][hapmap]
rs1748383	0.91[CEU][hapmap]
rs1748387	0.91[CEU][hapmap]
rs1980757	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269714	0.85[JPT][hapmap]
rs2269715	0.85[JPT][hapmap]
rs2518477	0.91[CEU][hapmap]
rs3021476	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3021478	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087210	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087211	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087212	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087213	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3118165	0.91[CEU][hapmap]
rs3136533	0.85[JPT][hapmap]
rs368130	0.91[CEU][hapmap]
rs374513	0.91[CEU][hapmap]
rs377795	0.91[CEU][hapmap]
rs383688	0.91[CEU][hapmap]
rs384414	0.91[CEU][hapmap]
rs389495	0.90[CEU][hapmap]
rs393304	0.83[CEU][hapmap]
rs401904	0.91[CEU][hapmap]
rs402699	0.91[CEU][hapmap]
rs407309	0.91[CEU][hapmap]
rs413557	0.91[CEU][hapmap]
rs434570	0.91[CEU][hapmap]
rs440862	0.91[CEU][hapmap]
rs448005	0.91[CEU][hapmap]
rs448556	0.91[CEU][hapmap]
rs449838	0.91[CEU][hapmap]
rs594364	0.91[CEU][hapmap]
rs607948	0.91[CEU][hapmap]
rs623215	0.91[CEU][hapmap]
rs6692064	0.92[EUR][1000 genomes]
rs6692133	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs691077	0.80[CEU][hapmap]
rs691175	0.91[CEU][hapmap]
rs691551	0.91[CEU][hapmap]
rs72711995	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711999	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7530662	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs7548147	0.95[JPT][hapmap]
rs7556487	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs859001	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs859002	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs859003	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859005	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859009	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859013	0.86[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158147000-158150400	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr1:158147800-158150400	Weak transcription	Left Ventricle	heart
3	chr1:158147800-158150600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:158148000-158150400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:158148000-158150400	Weak transcription	Esophagus	oesophagus
6	chr1:158148000-158150600	Weak transcription	Ovary	ovary
7	chr1:158148200-158150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:158148200-158150200	Enhancers	Fetal Kidney	kidney
9	chr1:158148200-158150200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:158148200-158150600	Weak transcription	Aorta	Aorta
11	chr1:158148400-158150200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:158148400-158150400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:158148400-158150400	Weak transcription	Colonic Mucosa	Colon
14	chr1:158149000-158150200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:158149000-158150400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr1:158149000-158150400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:158149200-158150200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:158149200-158150400	Enhancers	Psoas Muscle	Psoas
19	chr1:158149200-158150400	Enhancers	Right Atrium	heart
20	chr1:158149200-158150600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:158149200-158150600	Enhancers	Spleen	Spleen
22	chr1:158149200-158151000	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:158149200-158152400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr1:158149400-158150200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:158149400-158150200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr1:158149400-158150200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:158149400-158150400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr1:158149400-158150400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:158149400-158150400	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr1:158149400-158150400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr1:158149400-158150400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:158149400-158150400	Enhancers	Right Ventricle	heart
33	chr1:158149400-158150600	Enhancers	Pancreas	Pancrea
34	chr1:158149600-158150200	Enhancers	Primary T cells from cord blood	blood
35	chr1:158149600-158150200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr1:158149600-158150400	Enhancers	Fetal Heart	heart
37	chr1:158149600-158150600	Flanking Active TSS	Dnd41	blood
38	chr1:158149800-158150200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr1:158149800-158150200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr1:158149800-158150200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:158149800-158150200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:158149800-158150200	Enhancers	NHEK	skin
43	chr1:158149800-158150400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:158149800-158150400	Bivalent Enhancer	Colon Smooth Muscle	Colon
45	chr1:158149800-158150400	Enhancers	Fetal Intestine Large	intestine
46	chr1:158149800-158150400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr1:158149800-158150400	Enhancers	HMEC	breast
48	chr1:158149800-158150600	Weak transcription	Small Intestine	intestine
49	chr1:158150000-158150200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr1:158150000-158150200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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