Variant report

Variant	rs860674
Chromosome Location	chr1:120402764-120402765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
2	chr1:120402638..120409843-chr1:120411143..120414879,6	K562	blood:
3	chr1:120401746..120405481-chr1:120411089..120413247,3	K562	blood:
4	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
5	chr1:120395050..120396919-chr1:120400456..120403382,2	K562	blood:
6	chr1:120402254..120403816-chr1:120407208..120410128,2	K562	blood:
7	chr1:120400878..120403434-chr1:120429544..120432344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227205	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1815687	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1856970	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1856971	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2153675	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2153676	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2185608	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2226084	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363611	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2487572	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2487573	0.86[CEU][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487575	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2495288	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2793833	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2843027	0.82[ASW][hapmap]
rs2994808	1.00[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2994809	0.98[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2994810	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2994811	0.82[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994812	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994813	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2994814	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2994815	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994816	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994817	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994818	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994819	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994820	0.88[ASN][1000 genomes]
rs2994821	0.87[ASN][1000 genomes]
rs2994822	0.85[ASN][1000 genomes]
rs3009182	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3009184	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs3009186	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3009187	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3009189	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3009190	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3009191	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3009192	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3009194	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3009195	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3009196	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3009197	1.00[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3009198	1.00[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3009199	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs835565	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs835578	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856658	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947268	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs947274	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv872180	chr1:120366055-120412885	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv946187	chr1:120370078-120406007	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv10672	chr1:120386985-120410007	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120400800-120403200	Enhancers	HUVEC	blood vessel
2	chr1:120400800-120404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:120400800-120404200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:120400800-120405000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:120401000-120404800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:120401200-120403200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:120401400-120403400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:120401400-120415000	Weak transcription	Fetal Kidney	kidney
9	chr1:120401600-120403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:120401800-120402800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:120401800-120402800	Enhancers	HMEC	breast
12	chr1:120401800-120402800	Enhancers	HSMMtube	muscle
13	chr1:120401800-120402800	Flanking Active TSS	K562	blood
14	chr1:120401800-120402800	Enhancers	NH-A	brain
15	chr1:120401800-120403000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:120401800-120403000	Enhancers	Stomach Mucosa	stomach
17	chr1:120401800-120403200	Enhancers	NHDF-Ad	bronchial
18	chr1:120401800-120403200	Enhancers	NHLF	lung
19	chr1:120401800-120403400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:120401800-120403800	Enhancers	HSMM	muscle
21	chr1:120402000-120402800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:120402000-120402800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:120402000-120402800	Enhancers	NHEK	skin
24	chr1:120402200-120402800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:120402200-120404000	Enhancers	Dnd41	blood
26	chr1:120402400-120402800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:120402400-120403400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:120402400-120410800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:120402600-120403000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:120402600-120403200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:120402600-120403200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:120402600-120404200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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