Variant report

Variant	rs12249578
Chromosome Location	chr10:96118647-96118648
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96118330..96120262-chr10:96120953..96122758,2	K562	blood:
2	chr10:96116941..96119884-chr10:96161764..96163918,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173145	Chromatin interaction
ENSG00000108239	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11187855	1.00[AMR][1000 genomes]
rs11187898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11187954	1.00[AMR][1000 genomes]
rs11188002	1.00[AMR][1000 genomes]
rs11188029	1.00[AMR][1000 genomes]
rs11188035	1.00[AMR][1000 genomes]
rs12243492	1.00[AMR][1000 genomes]
rs12243849	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12249709	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12250011	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12250480	1.00[AMR][1000 genomes]
rs12254178	1.00[AMR][1000 genomes]
rs12256637	1.00[AMR][1000 genomes]
rs12259382	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266679	1.00[AMR][1000 genomes]
rs12266908	1.00[AMR][1000 genomes]
rs12269029	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2244404	1.00[AMR][1000 genomes]
rs57412910	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60996053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6583938	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7067896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7081603	1.00[AMR][1000 genomes]
rs7082254	1.00[AMR][1000 genomes]
rs73321857	1.00[AMR][1000 genomes]
rs73323523	1.00[AMR][1000 genomes]
rs73323528	1.00[AMR][1000 genomes]
rs73327452	1.00[AMR][1000 genomes]
rs73327462	1.00[AMR][1000 genomes]
rs73327472	1.00[AMR][1000 genomes]
rs73327486	1.00[AMR][1000 genomes]
rs73327491	1.00[AMR][1000 genomes]
rs73327495	1.00[AMR][1000 genomes]
rs73329611	1.00[AMR][1000 genomes]
rs7902189	0.81[AFR][1000 genomes]
rs7907525	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs9665608	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
3	chr10:96078200-96121600	Weak transcription	Fetal Brain Male	brain
4	chr10:96080400-96121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:96081600-96121000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:96081600-96121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:96081800-96121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:96081800-96121000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:96082400-96121000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:96083000-96119800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:96083200-96118800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr10:96085000-96121000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:96085000-96122200	Weak transcription	Gastric	stomach
14	chr10:96086200-96121200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:96087600-96121200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:96088200-96121800	Weak transcription	Aorta	Aorta
17	chr10:96089000-96120600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:96089200-96119800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:96089600-96121000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:96089800-96119000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:96089800-96119400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr10:96089800-96119400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:96090400-96121000	Weak transcription	Fetal Heart	heart
24	chr10:96091000-96119800	Strong transcription	Liver	Liver
25	chr10:96096200-96121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:96100000-96121800	Weak transcription	Colonic Mucosa	Colon
27	chr10:96101400-96118800	Strong transcription	A549	lung
28	chr10:96102800-96121000	Weak transcription	Brain Angular Gyrus	brain
29	chr10:96104200-96121000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:96104600-96120600	Weak transcription	Small Intestine	intestine
31	chr10:96104600-96121000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:96105800-96121000	Strong transcription	Primary B cells from cord blood	blood
33	chr10:96108400-96120400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr10:96108400-96120600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:96108400-96121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:96108800-96119000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:96110400-96118800	Weak transcription	Fetal Intestine Small	intestine
38	chr10:96110400-96121800	Weak transcription	Spleen	Spleen
39	chr10:96110400-96122000	Weak transcription	Pancreas	Pancrea
40	chr10:96110800-96118800	Strong transcription	Placenta	Placenta
41	chr10:96111600-96121200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:96111600-96121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:96111600-96121800	Weak transcription	Lung	lung
44	chr10:96112600-96121000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:96112800-96121400	Weak transcription	Right Ventricle	heart
46	chr10:96113400-96118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:96113400-96119400	Weak transcription	Ovary	ovary
48	chr10:96113400-96121000	Weak transcription	Thymus	Thymus
49	chr10:96113400-96122000	Weak transcription	Esophagus	oesophagus
50	chr10:96114400-96119800	Strong transcription	Fetal Lung	lung

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