Variant report

Variant	rs12025905
Chromosome Location	chr1:171526910-171526911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171526513..171528515-chr1:171529740..171532609,2	MCF-7	breast:
2	chr1:171524993..171527275-chr1:171529233..171532217,2	K562	blood:
3	chr1:171525823..171528192-chr1:171546317..171548124,2	K562	blood:
4	chr1:171524993..171527170-chr1:171529233..171532079,2	K562	blood:
5	chr1:171495435..171497066-chr1:171526761..171528995,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10913141	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12035593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12036058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12041639	0.91[ASN][1000 genomes]
rs12079162	0.82[YRI][hapmap]
rs12239382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4916387	1.00[YRI][hapmap]
rs6703132	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:171521600-171532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:171521600-171563800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:171521800-171529400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:171521800-171529600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:171521800-171562800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:171522000-171529600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:171522600-171531400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:171522600-171564000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:171522800-171564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:171522800-171564200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:171523200-171531600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:171523400-171529200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:171523600-171527200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr1:171523800-171531600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:171524200-171527000	Strong transcription	Fetal Brain Male	brain
19	chr1:171524200-171529000	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr1:171524200-171532200	Strong transcription	Brain Substantia Nigra	brain
21	chr1:171524200-171537800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:171524200-171537800	Strong transcription	Brain Anterior Caudate	brain
23	chr1:171524200-171538200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:171524200-171549600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:171524200-171562800	Strong transcription	Liver	Liver
26	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
27	chr1:171524400-171527200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:171524400-171528400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:171524400-171528800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:171524400-171529600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr1:171524400-171530400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:171524400-171531600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:171524400-171531600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:171524400-171531600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:171524400-171531800	Strong transcription	Placenta	Placenta
36	chr1:171524400-171532200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:171524400-171533400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:171524400-171537600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:171524400-171538200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:171524400-171538400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:171524400-171541000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:171524400-171549000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:171524400-171549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:171524400-171553000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:171524400-171558200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:171524400-171563600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
48	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:171524600-171531600	Strong transcription	Brain Angular Gyrus	brain

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