Variant report

Variant	rs2982461
Chromosome Location	chr1:169029531-169029532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169022595..169026382-chr1:169029377..169031674,3	K562	blood:
2	chr1:169028967..169030659-chr1:169073676..169076132,2	MCF-7	breast:
3	chr1:169023159..169026217-chr1:169029043..169032413,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1040506	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200092	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1200097	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200099	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200103	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1200105	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1200106	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1200108	0.87[EUR][1000 genomes]
rs1200114	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1320974	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575042	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007364	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007369	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656175	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169027600-169031000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:169028000-169030000	Enhancers	Stomach Mucosa	stomach
3	chr1:169028000-169030400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:169028200-169030400	Enhancers	Adipose Nuclei	Adipose
5	chr1:169028800-169029600	Enhancers	Gastric	stomach
6	chr1:169028800-169030000	Enhancers	Fetal Intestine Large	intestine
7	chr1:169028800-169030000	Flanking Active TSS	A549	lung
8	chr1:169028800-169030400	Enhancers	Psoas Muscle	Psoas
9	chr1:169028800-169030400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:169028800-169030800	Enhancers	Fetal Intestine Small	intestine
11	chr1:169028800-169030800	Enhancers	Fetal Muscle Leg	muscle
12	chr1:169028800-169030800	Enhancers	Small Intestine	intestine
13	chr1:169028800-169031000	Flanking Active TSS	Hela-S3	cervix
14	chr1:169029000-169029800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:169029000-169029800	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:169029000-169029800	Enhancers	Placenta	Placenta
17	chr1:169029000-169030000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:169029000-169030400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:169029000-169030400	Enhancers	NHEK	skin
20	chr1:169029200-169029800	Enhancers	Lung	lung
21	chr1:169029200-169029800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:169029200-169029800	Flanking Active TSS	HepG2	liver
23	chr1:169029200-169030000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:169029200-169030000	Enhancers	Right Ventricle	heart
25	chr1:169029200-169030400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:169029200-169030400	Enhancers	Left Ventricle	heart
27	chr1:169029200-169030800	Enhancers	Fetal Heart	heart
28	chr1:169029200-169030800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:169029200-169031000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:169029200-169031400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:169029400-169029600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:169029400-169029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:169029400-169030000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:169029400-169030400	Enhancers	Right Atrium	heart
35	chr1:169029400-169030800	Enhancers	HUVEC	blood vessel
36	chr1:169029400-169030800	Enhancers	K562	blood
37	chr1:169029400-169031000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:169029400-169031400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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