Variant report

Variant	rs7551880
Chromosome Location	chr1:93258500-93258501
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	JUND	chr1:93257210-93258698	K562	blood:	n/a	chr1:93257999-93258009 chr1:93258001-93258012 chr1:93257499-93257508 chr1:93258530-93258539 chr1:93258000-93258008 chr1:93257999-93258009 chr1:93257998-93258010

No.	Distal block	Cell Line	Cell type
1	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
2	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
3	chr1:93256019..93258677-chr1:93296885..93300584,5	K562	blood:

Variant related genes	Relation type
EVI5	TF binding region
ENSG00000122406	Chromatin interaction
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 215 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:213)

rs_ID	r²[population]
rs1017008	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10218567	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10218571	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10218670	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10735782	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735783	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10735784	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10735785	0.82[EUR][1000 genomes]
rs10747445	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10747447	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747448	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747449	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747450	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747451	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10747452	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10782938	0.93[EUR][1000 genomes]
rs10782940	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10782942	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10782944	0.85[CEU][hapmap]
rs10874715	0.93[EUR][1000 genomes]
rs10874716	0.93[EUR][1000 genomes]
rs10874721	0.93[EUR][1000 genomes]
rs10874728	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10874729	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10874730	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10874731	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11164778	0.93[EUR][1000 genomes]
rs11164790	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164799	0.95[EUR][1000 genomes]
rs11164804	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164805	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164806	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11164808	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164809	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164813	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164818	0.84[EUR][1000 genomes]
rs1182632	0.90[EUR][1000 genomes]
rs1182633	0.90[EUR][1000 genomes]
rs1182636	0.90[EUR][1000 genomes]
rs1182639	0.90[EUR][1000 genomes]
rs1182640	0.97[EUR][1000 genomes]
rs12029026	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12045019	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12046739	0.93[EUR][1000 genomes]
rs1337108	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1337109	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411706	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1415294	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1415295	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1537498	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1538029	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1556564	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1556565	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1610319	0.91[EUR][1000 genomes]
rs1932965	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1932966	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1932967	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1977224	0.90[EUR][1000 genomes]
rs1999819	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2008797	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2025100	0.85[CEU][hapmap]
rs2025101	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2027059	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2027060	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2039451	0.93[EUR][1000 genomes]
rs2039452	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2039453	0.93[EUR][1000 genomes]
rs2050597	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2065916	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2065917	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2077529	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2095265	0.93[EUR][1000 genomes]
rs2095266	0.93[EUR][1000 genomes]
rs2095267	0.90[EUR][1000 genomes]
rs2095268	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2097838	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2107520	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2107521	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2158446	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2180977	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2244496	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2244588	0.84[EUR][1000 genomes]
rs2298912	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391164	0.93[EUR][1000 genomes]
rs2391193	0.87[EUR][1000 genomes]
rs2391194	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391196	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391199	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2391200	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2391201	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2774940	0.87[EUR][1000 genomes]
rs2774941	1.00[CEU][hapmap]
rs2774947	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2811599	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs2811602	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs2893217	0.93[EUR][1000 genomes]
rs35054144	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3790445	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3790446	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3898498	0.93[EUR][1000 genomes]
rs3898499	0.93[EUR][1000 genomes]
rs3928821	0.93[EUR][1000 genomes]
rs3936946	0.93[EUR][1000 genomes]
rs4000726	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4000727	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4120650	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4264007	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4417075	0.93[EUR][1000 genomes]
rs4525050	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4526624	0.88[EUR][1000 genomes]
rs4638137	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4642893	0.91[EUR][1000 genomes]
rs4847217	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847221	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4847232	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs4847234	0.93[EUR][1000 genomes]
rs4847247	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4847266	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4847280	0.93[EUR][1000 genomes]
rs4847285	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847304	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847305	0.93[EUR][1000 genomes]
rs4847309	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847310	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847327	0.93[EUR][1000 genomes]
rs4847363	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4847370	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847400	0.93[EUR][1000 genomes]
rs4847427	0.93[EUR][1000 genomes]
rs6422515	0.93[EUR][1000 genomes]
rs6603993	0.93[EUR][1000 genomes]
rs6603994	0.93[EUR][1000 genomes]
rs6603999	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6604000	0.93[EUR][1000 genomes]
rs6604003	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6604004	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6604006	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6604010	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604012	0.97[EUR][1000 genomes]
rs6604015	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604018	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6659942	0.85[CEU][hapmap]
rs6660296	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6661600	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6665121	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6665579	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6668283	0.83[EUR][1000 genomes]
rs6668584	0.88[EUR][1000 genomes]
rs6669914	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6671114	0.93[EUR][1000 genomes]
rs6671421	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6675246	0.93[EUR][1000 genomes]
rs6676454	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6678864	0.88[EUR][1000 genomes]
rs6679839	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6685705	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6687803	0.93[EUR][1000 genomes]
rs6691038	0.86[EUR][1000 genomes]
rs6693371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6696636	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6701130	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6702031	0.82[EUR][1000 genomes]
rs6703467	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6704249	0.83[EUR][1000 genomes]
rs723909	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72728629	0.87[EUR][1000 genomes]
rs7416169	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7513624	0.87[EUR][1000 genomes]
rs7513815	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7514716	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7515478	0.93[EUR][1000 genomes]
rs7515866	0.90[EUR][1000 genomes]
rs7516141	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7516537	0.87[EUR][1000 genomes]
rs7519694	0.90[EUR][1000 genomes]
rs7521345	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7526582	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7527835	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7529332	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7529630	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7532731	0.89[EUR][1000 genomes]
rs7538520	0.93[EUR][1000 genomes]
rs7540407	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7543327	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7543964	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545318	0.93[EUR][1000 genomes]
rs7549844	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7551340	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7552085	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7553367	0.93[EUR][1000 genomes]
rs7554183	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7554868	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7556243	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs757469	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs914064	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs914966	0.93[EUR][1000 genomes]
rs927339	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs932637	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9439917	0.93[EUR][1000 genomes]
rs9439920	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9439924	1.00[EUR][1000 genomes]
rs945724	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs963043	0.93[EUR][1000 genomes]
rs963044	0.93[EUR][1000 genomes]
rs9633481	0.93[EUR][1000 genomes]
rs9651256	0.93[EUR][1000 genomes]
rs9661812	0.81[EUR][1000 genomes]
rs9699810	0.91[EUR][1000 genomes]
rs976208	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs976209	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs980940	0.88[AMR][1000 genomes];0.97[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93255800-93260000	Weak transcription	HepG2	liver
2	chr1:93256800-93258800	Enhancers	Fetal Heart	heart
3	chr1:93257200-93258600	Active TSS	Stomach Mucosa	stomach
4	chr1:93257200-93258600	Enhancers	Hela-S3	cervix
5	chr1:93257600-93258800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:93257800-93258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:93257800-93259400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:93257800-93259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:93258000-93258800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:93258000-93259000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:93258000-93260000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:93258000-93268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
14	chr1:93258200-93263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:93258200-93263600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:93258400-93258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:93258400-93258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:93258400-93258800	Enhancers	HUVEC	blood vessel
19	chr1:93258400-93258800	Enhancers	K562	blood

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