Variant report

Variant	rs7529143
Chromosome Location	chr1:224522211-224522212
allele	C/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	RUNX3	chr1:224521571-224522327	GM12878	blood:	n/a	n/a
2	FOS	chr1:224521689-224522240	HUVEC	blood vessel:	n/a	n/a
3	TEAD4	chr1:224520941-224522224	K562	blood:	n/a	n/a
4	JUND	chr1:224521495-224522324	SK-N-SH	brain:	n/a	n/a
5	JUND	chr1:224521540-224522212	SK-N-SH	brain:	n/a	n/a
6	MEF2A	chr1:224521436-224522228	SK-N-SH	brain:	n/a	chr1:224521880-224521895
7	GATA3	chr1:224520955-224522463	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr1:224521543-224522212	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr1:224521404-224522286	SK-N-SH	brain:	n/a	n/a
10	ZNF143	chr1:224521747-224522381	GM12878	blood:	n/a	chr1:224522063-224522081
11	MEF2A	chr1:224521519-224522269	SK-N-SH	brain:	n/a	chr1:224521880-224521895
12	TCF12	chr1:224520993-224522247	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr1:224521513-224522291	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr1:224521491-224522269	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224300393..224303379-chr1:224521075..224523578,3	MCF-7	breast:

Variant related genes	Relation type
NVL	TF binding region
ENSG00000238856	TF binding region
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10158063	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10733024	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737442	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10753462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753464	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799562	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799566	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799567	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799568	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916577	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916585	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802486	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11811730	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16846031	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846214	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846244	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806742	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001712	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001713	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404783	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404856	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404857	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404859	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404861	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405062	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405065	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405067	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405070	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896990	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897054	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754090	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767721	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767724	1.00[ASN][1000 genomes]
rs3767725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146965	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146966	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256779	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4420060	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4457542	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4628473	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653581	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653583	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653584	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654011	0.88[ASN][1000 genomes]
rs4654017	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654022	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654032	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654033	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654034	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55675086	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55980628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57324770	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58855990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59106681	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426088	0.91[ASN][1000 genomes]
rs6426094	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426100	0.81[ASN][1000 genomes]
rs6426110	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426114	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6426115	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426117	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681790	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6682667	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6685600	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691689	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694745	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699017	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118046	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73128468	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130448	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130455	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130462	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521015	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522392	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530205	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534101	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7534447	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287027	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr1:224518600-224526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224518600-224528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224519200-224526200	Weak transcription	HepG2	liver
4	chr1:224521000-224522400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:224521200-224522600	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:224521400-224522400	Enhancers	HSMMtube	muscle
7	chr1:224521400-224522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:224521400-224522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:224521600-224527000	Weak transcription	A549	lung
10	chr1:224521600-224528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:224521600-224528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:224521800-224522600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224521800-224528600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:224522000-224524600	Weak transcription	GM12878-XiMat	blood
15	chr1:224522200-224522600	Enhancers	K562	blood
16	chr1:224522200-224522600	Enhancers	Osteobl	bone
17	chr1:224522200-224523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:224522200-224526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:224522200-224528400	Weak transcription	HUVEC	blood vessel

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