Variant report

Variant	rs703666
Chromosome Location	chr12:105067748-105067749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105067366..105069246-chr12:105069344..105071422,3	MCF-7	breast:
2	chr12:104850296..104852857-chr12:105066899..105068579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs703664	0.83[EUR][1000 genomes]
rs703667	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs703668	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703669	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703670	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703673	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703674	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703675	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703676	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs703679	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105060200-105068400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:105060800-105067800	Enhancers	Placenta	Placenta
3	chr12:105061000-105067800	Enhancers	Gastric	stomach
4	chr12:105061000-105068000	Enhancers	Fetal Muscle Leg	muscle
5	chr12:105061000-105068200	Enhancers	Fetal Stomach	stomach
6	chr12:105061200-105067800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105061200-105068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:105062000-105068000	Enhancers	NHLF	lung
9	chr12:105062000-105068400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:105062200-105067800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:105062800-105068400	Enhancers	Fetal Heart	heart
12	chr12:105063400-105068600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:105063600-105068200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:105063600-105068400	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:105063800-105067800	Enhancers	Right Ventricle	heart
16	chr12:105063800-105068400	Enhancers	Colon Smooth Muscle	Colon
17	chr12:105065200-105067800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:105065200-105067800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:105065400-105076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:105065600-105075400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:105065800-105068000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:105066000-105067800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:105066000-105068000	Weak transcription	Aorta	Aorta
24	chr12:105066000-105068000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:105066000-105068200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:105066000-105071200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:105066000-105072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:105066000-105073000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:105066000-105073600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:105066000-105073800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:105066000-105074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:105066000-105074000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:105066200-105067800	Weak transcription	Liver	Liver
34	chr12:105066200-105067800	Enhancers	Osteobl	bone
35	chr12:105066200-105068000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:105066200-105068000	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:105066200-105068000	Enhancers	GM12878-XiMat	blood
38	chr12:105066200-105068200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:105066200-105070600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:105066200-105070600	Weak transcription	Fetal Brain Male	brain
41	chr12:105066200-105071000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:105066200-105073200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:105066200-105073600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:105066200-105074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:105066200-105074200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:105066400-105067800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:105066400-105067800	Enhancers	HSMM	muscle
48	chr12:105066400-105068000	Enhancers	HSMMtube	muscle
49	chr12:105066400-105068200	Enhancers	NHDF-Ad	bronchial
50	chr12:105066400-105074200	Weak transcription	Thymus	Thymus

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