Variant report

Variant	rs10908849
Chromosome Location	chr1:154523588-154523589
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154523423-154523674	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:154523554-154523799	GM12891	blood:	n/a	n/a
3	MYC	chr1:154523541-154523606	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:154523312-154523651	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:154523581-154524189	K562	blood:	n/a	n/a
6	POLR2A	chr1:154523414-154524034	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154450895..154452428-chr1:154521385..154523605,2	K562	blood:

Variant related genes	Relation type
UBE2Q1-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12144146	1.00[CHB][hapmap]
rs4076089	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4078519	1.00[MEX][hapmap]
rs4584384	0.81[LWK][hapmap];0.86[YRI][hapmap]
rs4845639	0.81[YRI][hapmap]
rs4845651	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5018567	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs6686197	1.00[EUR][1000 genomes]
rs9427089	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154513600-154528400	Weak transcription	Right Atrium	heart
2	chr1:154517600-154523600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154518000-154526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154520000-154528200	Strong transcription	Placenta	Placenta
5	chr1:154520600-154528400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:154520600-154528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:154520600-154528800	Strong transcription	Primary T cells from cord blood	blood
8	chr1:154520800-154528400	Strong transcription	Adipose Nuclei	Adipose
9	chr1:154520800-154528400	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr1:154520800-154528600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:154520800-154528800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:154521000-154528200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154521000-154528200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:154521000-154528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:154521000-154528600	Strong transcription	Fetal Thymus	thymus
16	chr1:154521200-154523600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:154521200-154523600	Genic enhancers	Dnd41	blood
18	chr1:154521200-154525000	Strong transcription	HMEC	breast
19	chr1:154521200-154525200	Strong transcription	Psoas Muscle	Psoas
20	chr1:154521200-154525200	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:154521200-154525400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:154521200-154525800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:154521200-154526000	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:154521200-154526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:154521200-154526200	Strong transcription	NHEK	skin
26	chr1:154521200-154527800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:154521200-154528200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr1:154521200-154528200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:154521200-154528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:154521200-154528400	Strong transcription	Primary B cells from cord blood	blood
31	chr1:154521200-154528400	Strong transcription	Brain Anterior Caudate	brain
32	chr1:154521200-154528400	Strong transcription	Brain Hippocampus Middle	brain
33	chr1:154521200-154528400	Strong transcription	HUVEC	blood vessel
34	chr1:154521200-154528400	Strong transcription	NH-A	brain
35	chr1:154521200-154528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:154521200-154528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:154521200-154528600	Strong transcription	HSMM	muscle
38	chr1:154521200-154528800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:154521200-154528800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:154521200-154528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:154521400-154524200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:154521400-154524600	Genic enhancers	Liver	Liver
43	chr1:154521400-154525200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:154521400-154525400	Strong transcription	Colon Smooth Muscle	Colon
45	chr1:154521400-154525600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:154521400-154525800	Strong transcription	Fetal Stomach	stomach
47	chr1:154521400-154527800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:154521400-154528000	Strong transcription	Brain Substantia Nigra	brain
49	chr1:154521400-154528200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:154521400-154528200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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