Variant report

Variant	rs35090883
Chromosome Location	chr12:104726489-104726490
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	chr12:104714658..104717606-chr12:104724030..104726701,2	K562	blood:
2	chr12:104722336..104725223-chr12:104725652..104727853,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34244007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34310509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35496411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35730157	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35928066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55717848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56139001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60783408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60836659	0.94[AFR][1000 genomes]
rs61116902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:104699400-104728400	Weak transcription	Fetal Heart	heart
3	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:104702400-104747400	Strong transcription	Dnd41	blood
7	chr12:104703000-104749200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:104703400-104738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104703400-104747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:104703600-104744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:104703800-104733000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:104704400-104743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:104704800-104747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:104708400-104728400	Strong transcription	Osteobl	bone
15	chr12:104709800-104732800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:104709800-104749200	Strong transcription	HUVEC	blood vessel
17	chr12:104714200-104728200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:104715600-104734800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:104716200-104727400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:104716400-104736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:104717600-104744600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:104717600-104746200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:104717800-104727600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:104717800-104733400	Strong transcription	HSMM	muscle
25	chr12:104717800-104744000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:104717800-104746400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:104717800-104747600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:104717800-104748000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:104718400-104746200	Strong transcription	Hela-S3	cervix
30	chr12:104718600-104737200	Strong transcription	NHDF-Ad	bronchial
31	chr12:104719400-104727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:104720600-104739000	Strong transcription	GM12878-XiMat	blood
33	chr12:104721000-104728200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:104721400-104728400	Weak transcription	Right Ventricle	heart
35	chr12:104721600-104727400	Weak transcription	Primary B cells from cord blood	blood
36	chr12:104721600-104728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:104721600-104728000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:104721600-104728200	Weak transcription	Colonic Mucosa	Colon
39	chr12:104721600-104729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:104721600-104732800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:104721600-104733800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:104721800-104728000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:104721800-104728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:104721800-104728400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:104721800-104732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:104721800-104732800	Weak transcription	Esophagus	oesophagus
47	chr12:104721800-104733600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
49	chr12:104722000-104727400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:104722000-104731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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