Variant report

Variant	rs12251926
Chromosome Location	chr10:6147146-6147147
allele	C/G
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	SIN3A	chr10:6146874-6147208	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:6147026-6147204	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr10:6147075-6147191	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6145387..6148219-chr10:6148425..6153843,7	K562	blood:
2	chr10:6136068..6139064-chr10:6145964..6148767,2	MCF-7	breast:
3	chr10:6145584..6148508-chr10:6244741..6246500,2	MCF-7	breast:

Variant related genes	Relation type
RBM17	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737035	1.00[MEX][hapmap]
rs10905877	1.00[EUR][1000 genomes]
rs10905878	1.00[EUR][1000 genomes]
rs12242912	1.00[EUR][1000 genomes]
rs12257378	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs12266057	1.00[EUR][1000 genomes]
rs12722612	1.00[EUR][1000 genomes]
rs12722614	1.00[EUR][1000 genomes]
rs12722622	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12722623	1.00[EUR][1000 genomes]
rs12722634	1.00[EUR][1000 genomes]
rs4607966	1.00[MEX][hapmap]
rs583586	1.00[EUR][1000 genomes]
rs6602601	1.00[MEX][hapmap]
rs7083971	1.00[MEX][hapmap]
rs7092587	1.00[EUR][1000 genomes]
rs73605967	1.00[EUR][1000 genomes]
rs7896447	1.00[MEX][hapmap]
rs7896921	1.00[EUR][1000 genomes]
rs942198	1.00[MEX][hapmap]
rs942199	1.00[MEX][hapmap]
rs942200	1.00[MEX][hapmap]
rs9988772	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr10:6132800-6150400	Weak transcription	Stomach Mucosa	stomach
2	chr10:6132800-6152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:6133800-6149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:6134000-6149800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:6136800-6150600	Strong transcription	Fetal Thymus	thymus
6	chr10:6137400-6150600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:6137800-6150400	Strong transcription	Primary B cells from cord blood	blood
9	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:6138200-6150400	Strong transcription	Primary T cells from cord blood	blood
11	chr10:6138200-6150800	Strong transcription	Dnd41	blood
12	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr10:6138400-6150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:6138400-6150400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:6138400-6150600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:6138400-6151000	Weak transcription	Fetal Heart	heart
17	chr10:6138400-6152200	Weak transcription	Fetal Brain Male	brain
18	chr10:6138400-6154000	Weak transcription	Small Intestine	intestine
19	chr10:6138800-6150200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:6138800-6150400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:6138800-6150600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:6138800-6152800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
24	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:6139000-6148800	Strong transcription	A549	lung
26	chr10:6139000-6150200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:6139000-6150400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:6139000-6150400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:6139000-6150600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:6139000-6151400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:6139000-6154000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:6139000-6156600	Strong transcription	Fetal Muscle Leg	muscle
33	chr10:6139000-6158600	Strong transcription	Fetal Intestine Large	intestine
34	chr10:6139000-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr10:6139200-6150200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:6139200-6150600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:6139200-6156200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:6139200-6156200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:6139200-6156200	Strong transcription	Osteobl	bone
42	chr10:6139200-6156400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:6139600-6150400	Strong transcription	HMEC	breast
44	chr10:6139600-6150600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:6139600-6155400	Strong transcription	HSMM	muscle
46	chr10:6139600-6156400	Strong transcription	NH-A	brain
47	chr10:6139800-6156200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:6140000-6149000	Weak transcription	Lung	lung
49	chr10:6140000-6149000	Weak transcription	Pancreas	Pancrea
50	chr10:6140000-6150000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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