Variant report

Variant	rs4839293
Chromosome Location	chr1:113687702-113687703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:
2	chr1:113683011..113687065-chr1:113687072..113690657,5	K562	blood:
3	chr1:113686049..113694370-chr1:113929775..113935752,18	MCF-7	breast:
4	chr1:113687424..113692442-chr1:113930468..113933577,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10494148	0.87[EUR][1000 genomes]
rs10494149	0.88[EUR][1000 genomes]
rs10494150	0.88[EUR][1000 genomes]
rs10494152	0.92[EUR][1000 genomes]
rs10776764	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11102590	0.89[EUR][1000 genomes]
rs11102591	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1133524	0.82[AMR][1000 genomes]
rs12070586	0.90[EUR][1000 genomes]
rs12072108	0.90[EUR][1000 genomes]
rs12073607	0.90[EUR][1000 genomes]
rs12123070	0.92[EUR][1000 genomes]
rs12123194	0.92[EUR][1000 genomes]
rs12123876	0.92[EUR][1000 genomes]
rs12125209	0.87[EUR][1000 genomes]
rs12125253	0.87[EUR][1000 genomes]
rs12125281	0.92[EUR][1000 genomes]
rs12125282	0.92[EUR][1000 genomes]
rs12126040	0.92[EUR][1000 genomes]
rs12126180	0.92[EUR][1000 genomes]
rs12126412	0.92[EUR][1000 genomes]
rs12126415	0.92[EUR][1000 genomes]
rs12127119	0.92[EUR][1000 genomes]
rs12127186	0.92[EUR][1000 genomes]
rs12129741	0.92[EUR][1000 genomes]
rs12129773	0.92[EUR][1000 genomes]
rs12129924	0.87[EUR][1000 genomes]
rs12130429	0.87[EUR][1000 genomes]
rs12130787	0.92[EUR][1000 genomes]
rs12131406	0.84[EUR][1000 genomes]
rs12132547	0.92[EUR][1000 genomes]
rs12133159	0.84[EUR][1000 genomes]
rs12133521	0.84[EUR][1000 genomes]
rs12134261	0.92[EUR][1000 genomes]
rs12134347	0.90[EUR][1000 genomes]
rs12136369	0.92[EUR][1000 genomes]
rs12137440	0.92[EUR][1000 genomes]
rs12141374	0.87[EUR][1000 genomes]
rs12141890	0.87[EUR][1000 genomes]
rs1216791	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216796	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216797	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1216872	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1216873	0.88[EUR][1000 genomes]
rs1216880	0.82[AMR][1000 genomes]
rs1216884	0.84[EUR][1000 genomes]
rs1216886	0.83[AMR][1000 genomes]
rs1216890	0.80[AMR][1000 genomes]
rs12404563	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12405087	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12723657	0.87[EUR][1000 genomes]
rs12728957	0.92[EUR][1000 genomes]
rs12732564	0.86[EUR][1000 genomes]
rs12736831	0.92[EUR][1000 genomes]
rs12745847	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12748429	0.87[EUR][1000 genomes]
rs12757593	0.89[EUR][1000 genomes]
rs12760482	0.87[EUR][1000 genomes]
rs1316767	0.87[EUR][1000 genomes]
rs1661	0.89[EUR][1000 genomes]
rs17031099	0.89[EUR][1000 genomes]
rs17031158	0.87[EUR][1000 genomes]
rs17031160	0.87[EUR][1000 genomes]
rs1933656	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933660	0.92[EUR][1000 genomes]
rs1999905	0.92[EUR][1000 genomes]
rs1999906	0.92[EUR][1000 genomes]
rs2185105	0.87[EUR][1000 genomes]
rs2185106	0.87[EUR][1000 genomes]
rs2359709	0.85[EUR][1000 genomes]
rs2359710	0.87[EUR][1000 genomes]
rs2359711	0.87[EUR][1000 genomes]
rs34236373	0.87[EUR][1000 genomes]
rs34441710	0.92[EUR][1000 genomes]
rs35368423	0.92[EUR][1000 genomes]
rs35470019	0.92[EUR][1000 genomes]
rs35737003	0.83[EUR][1000 genomes]
rs35793987	0.90[EUR][1000 genomes]
rs35822819	0.84[EUR][1000 genomes]
rs36049267	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4240536	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4427400	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4630126	0.90[EUR][1000 genomes]
rs4839290	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4839295	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4839296	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4839297	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56204018	0.90[EUR][1000 genomes]
rs6537773	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6537777	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6683099	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67028986	0.92[EUR][1000 genomes]
rs67038449	0.92[EUR][1000 genomes]
rs72685622	0.90[EUR][1000 genomes]
rs749956	0.87[EUR][1000 genomes]
rs7513596	0.92[EUR][1000 genomes]
rs7513698	0.92[EUR][1000 genomes]
rs7515810	0.87[EUR][1000 genomes]
rs7521854	0.85[EUR][1000 genomes]
rs7540970	0.87[EUR][1000 genomes]
rs7543653	0.89[EUR][1000 genomes]
rs7548091	0.89[EUR][1000 genomes]
rs7551138	0.89[EUR][1000 genomes]
rs7556148	0.88[EUR][1000 genomes]
rs7556534	0.84[EUR][1000 genomes]
rs9628702	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
2	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:113683800-113689000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:113683800-113689200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:113683800-113689800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:113684000-113688400	Weak transcription	Fetal Kidney	kidney
7	chr1:113684000-113688800	Weak transcription	Placenta	Placenta
8	chr1:113684000-113688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:113684000-113689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:113684000-113689800	Weak transcription	Lung	lung
11	chr1:113684200-113689800	Weak transcription	Small Intestine	intestine
12	chr1:113684400-113688800	Weak transcription	Colonic Mucosa	Colon
13	chr1:113684400-113688800	Weak transcription	Fetal Thymus	thymus
14	chr1:113684400-113689200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:113684400-113692800	Weak transcription	GM12878-XiMat	blood
16	chr1:113684600-113688400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:113684600-113689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:113684800-113688200	Weak transcription	HepG2	liver
19	chr1:113684800-113689200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:113685000-113688400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:113685200-113688400	Weak transcription	Fetal Intestine Large	intestine
22	chr1:113685400-113689000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:113685400-113691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:113685600-113688400	Weak transcription	A549	lung
25	chr1:113685600-113688600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:113685600-113689400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:113685600-113689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:113685600-113690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:113685600-113690200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:113685600-113691600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:113685800-113689000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:113685800-113689000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:113685800-113689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:113685800-113689200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:113685800-113689400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:113685800-113689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:113686000-113688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:113686000-113688400	Weak transcription	Dnd41	blood
39	chr1:113686000-113688800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:113686000-113689000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:113686000-113689000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:113686000-113689200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:113686000-113689200	Weak transcription	NH-A	brain
44	chr1:113686200-113688800	Weak transcription	HUVEC	blood vessel
45	chr1:113686200-113688800	Weak transcription	K562	blood
46	chr1:113686200-113689200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:113686200-113695600	Weak transcription	Stomach Mucosa	stomach
48	chr1:113686400-113688400	Weak transcription	Primary T cells from cord blood	blood
49	chr1:113687200-113689400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:113687400-113689400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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