Variant report

Variant	rs925192
Chromosome Location	chr1:92038225-92038226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92037546..92039285-chr1:92042133..92044413,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10747457	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10782964	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2391018	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.99[EUR][1000 genomes]
rs6689719	0.89[CEU][hapmap]
rs7514544	0.98[EUR][1000 genomes]
rs7517168	0.98[EUR][1000 genomes]
rs906634	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]
rs925191	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92032200-92040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:92034800-92038400	Enhancers	Adipose Nuclei	Adipose
3	chr1:92035200-92038400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:92035600-92038600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:92035800-92040000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:92035800-92040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:92035800-92041400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:92035800-92041600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:92035800-92047600	Weak transcription	Ovary	ovary
10	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:92036000-92041400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:92036000-92043800	Weak transcription	A549	lung
13	chr1:92036000-92043800	Weak transcription	K562	blood
14	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:92036200-92039600	Weak transcription	Fetal Lung	lung
16	chr1:92036200-92040200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:92036200-92041400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:92036200-92044400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:92036400-92039200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:92036600-92040600	Weak transcription	Osteobl	bone
22	chr1:92036600-92041600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:92037200-92038400	Enhancers	HUVEC	blood vessel
24	chr1:92037200-92045600	Enhancers	Fetal Stomach	stomach
25	chr1:92037400-92038400	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:92037400-92040000	Weak transcription	NHLF	lung
27	chr1:92037600-92039800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:92037800-92040400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:92037800-92041400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:92037800-92041600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:92038000-92038400	Enhancers	GM12878-XiMat	blood
32	chr1:92038000-92039800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:92038000-92040200	Weak transcription	NHDF-Ad	bronchial
34	chr1:92038000-92040400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:92038000-92041400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:92038000-92041600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:92038000-92041600	Weak transcription	Fetal Thymus	thymus
40	chr1:92038000-92042000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:92038000-92042400	Weak transcription	Left Ventricle	heart
42	chr1:92038000-92042400	Weak transcription	Right Ventricle	heart
43	chr1:92038000-92044400	Weak transcription	Lung	lung
44	chr1:92038000-92045200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:92038200-92038400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:92038200-92038400	Enhancers	Primary B cells from cord blood	blood
47	chr1:92038200-92039200	Weak transcription	Fetal Heart	heart
48	chr1:92038200-92041400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:92038200-92041400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:92038200-92041600	Weak transcription	Primary T cells fromperipheralblood	blood

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