Variant report

Variant	rs2153694
Chromosome Location	chr1:241659938-241659939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:241657782..241660059-chr1:241681983..241684079,2	K562	blood:
2	chr1:241649973..241652438-chr1:241659468..241661017,2	K562	blood:

Variant related genes	Relation type
ENSG00000091483	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12071124	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12120348	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1335898	0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2225788	0.87[EUR][1000 genomes]
rs2992644	0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2994982	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2994985	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2994987	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994989	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4659607	0.83[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660100	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6678766	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7530270	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS 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	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241647000-241660000	Weak transcription	A549	lung
2	chr1:241647000-241660000	Weak transcription	Hela-S3	cervix
3	chr1:241647000-241666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:241648400-241660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:241652000-241665200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:241655200-241660200	Weak transcription	Pancreas	Pancrea
7	chr1:241655600-241665200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:241655800-241660200	Weak transcription	Fetal Kidney	kidney
9	chr1:241655800-241677200	Strong transcription	Liver	Liver
10	chr1:241656000-241665000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:241656000-241666000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:241656200-241665000	Weak transcription	Small Intestine	intestine
13	chr1:241656400-241660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:241656400-241661600	Weak transcription	Colonic Mucosa	Colon
15	chr1:241656400-241662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:241656400-241663400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:241656400-241666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:241656800-241661800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr1:241656800-241662800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:241656800-241662800	Strong transcription	Primary T cells from cord blood	blood
21	chr1:241656800-241670000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:241656800-241677000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:241656800-241678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:241657000-241660600	Strong transcription	Fetal Stomach	stomach
25	chr1:241657000-241660800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr1:241657000-241661400	Strong transcription	Brain Anterior Caudate	brain
27	chr1:241657000-241662000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:241657000-241662000	Strong transcription	Spleen	Spleen
29	chr1:241657000-241662600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:241657000-241662800	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:241657000-241663000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:241657000-241663600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:241657000-241664200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:241657000-241669800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:241657000-241670000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:241657000-241675800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:241657000-241676000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:241657000-241676200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:241657000-241676400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:241657000-241677000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:241657000-241677200	Strong transcription	Adipose Nuclei	Adipose
42	chr1:241657000-241677400	Strong transcription	Fetal Thymus	thymus
43	chr1:241657000-241680000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:241657200-241661800	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:241657200-241662000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:241657200-241662600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:241657200-241662600	Strong transcription	Left Ventricle	heart
48	chr1:241657200-241662600	Strong transcription	Thymus	Thymus
49	chr1:241657200-241662800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:241657200-241663000	Strong transcription	Fetal Muscle Trunk	muscle

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