Variant report

Variant	rs12135670
Chromosome Location	chr1:193098070-193098071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193095659..193099355-chr1:193099696..193102683,5	K562	blood:
2	chr1:193089959..193094995-chr1:193095229..193100634,8	MCF-7	breast:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193089388..193093802-chr1:193093867..193102021,11	MCF-7	breast:
5	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
6	chr1:193097620..193100469-chr1:193104298..193107168,3	K562	blood:
7	chr1:193073325..193076205-chr1:193095483..193099913,5	MCF-7	breast:
8	chr1:193095238..193099348-chr1:193099443..193102789,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10801170	1.00[CEU][hapmap]
rs10801186	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs10921331	1.00[CEU][hapmap]
rs12119992	1.00[CEU][hapmap]
rs12122868	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12123069	0.83[EUR][1000 genomes]
rs12123511	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12123750	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123793	0.89[EUR][1000 genomes]
rs12123970	1.00[CEU][hapmap]
rs12124921	0.83[EUR][1000 genomes]
rs12124924	0.83[EUR][1000 genomes]
rs12128125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129126	0.83[EUR][1000 genomes]
rs12132305	1.00[CEU][hapmap]
rs12134846	1.00[CEU][hapmap]
rs12135148	1.00[CEU][hapmap]
rs12141029	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141559	0.89[EUR][1000 genomes]
rs12143361	0.89[EUR][1000 genomes]
rs12143573	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145101	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145609	0.89[EUR][1000 genomes]
rs1325196	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17526825	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17592633	0.89[EUR][1000 genomes]
rs17593120	1.00[CEU][hapmap]
rs2887640	1.00[CEU][hapmap]
rs28930673	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs28930674	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap]
rs6667917	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs72731058	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731066	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731068	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740227	0.83[EUR][1000 genomes]
rs72740228	0.83[EUR][1000 genomes]
rs72740230	0.83[EUR][1000 genomes]
rs7525157	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr1:193092600-193099400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:193092600-193099400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:193092600-193108000	Weak transcription	Gastric	stomach
4	chr1:193092600-193109400	Weak transcription	Esophagus	oesophagus
5	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:193092800-193099600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:193092800-193099600	Weak transcription	Psoas Muscle	Psoas
8	chr1:193092800-193099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
10	chr1:193093200-193098400	Weak transcription	Right Ventricle	heart
11	chr1:193093200-193099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:193093200-193099400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:193093400-193098800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:193093400-193099400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:193093400-193099800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:193093600-193099000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:193093800-193098800	Weak transcription	NHLF	lung
18	chr1:193093800-193099200	Weak transcription	Fetal Brain Male	brain
19	chr1:193093800-193099400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:193093800-193099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:193093800-193099400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:193093800-193099400	Weak transcription	HSMMtube	muscle
23	chr1:193093800-193099600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:193093800-193099600	Weak transcription	Fetal Heart	heart
25	chr1:193093800-193103400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:193093800-193105800	Weak transcription	Right Atrium	heart
27	chr1:193093800-193109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
30	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:193094000-193098800	Weak transcription	Adipose Nuclei	Adipose
32	chr1:193094000-193099000	Weak transcription	NHDF-Ad	bronchial
33	chr1:193094000-193099400	Weak transcription	Fetal Kidney	kidney
34	chr1:193094000-193099600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:193094000-193099800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:193094000-193101600	Strong transcription	Fetal Intestine Large	intestine
37	chr1:193094000-193103600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:193094200-193099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:193094200-193099400	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:193094200-193099600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:193094200-193101600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:193094200-193101600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:193094200-193101800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:193094200-193101800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:193094200-193102000	Strong transcription	Osteobl	bone
48	chr1:193094200-193112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
50	chr1:193094400-193099000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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