Variant report

Variant	rs17123475
Chromosome Location	chr12:49373485-49373486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49372497..49376359-chr12:49376415..49380618,9	K562	blood:
2	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
3	chr12:49258574..49260193-chr12:49372117..49373983,2	MCF-7	breast:
4	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
5	chr12:49244149..49247655-chr12:49370994..49373492,3	K562	blood:
6	chr12:49373408..49376002-chr12:49380928..49383585,3	K562	blood:

Variant related genes	Relation type
ENSG00000174243	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000181929	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2293447	1.00[LWK][hapmap]

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49371000-49374200	Bivalent Enhancer	Placenta	Placenta
2	chr12:49371000-49375000	Bivalent Enhancer	NH-A	brain
3	chr12:49371200-49374000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:49371200-49375200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:49371400-49375600	Enhancers	Lung	lung
6	chr12:49371600-49373600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:49371600-49374000	Flanking Active TSS	Right Ventricle	heart
8	chr12:49371600-49374600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:49372000-49375400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:49372000-49375600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr12:49372000-49375600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:49372000-49375600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr12:49372000-49375600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr12:49372000-49375600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr12:49372000-49375600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr12:49372000-49375800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr12:49372200-49373600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:49372200-49373600	Flanking Active TSS	Right Atrium	heart
19	chr12:49372200-49374200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:49372200-49374200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:49372200-49374400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr12:49372200-49374600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr12:49372200-49374800	Bivalent Enhancer	HUVEC	blood vessel
24	chr12:49372200-49375000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:49372200-49375600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr12:49372200-49375600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr12:49372200-49375600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:49372200-49375600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr12:49372200-49375800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:49372200-49375800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr12:49372400-49373600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
32	chr12:49372400-49373600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
33	chr12:49372400-49373800	Bivalent Enhancer	Fetal Lung	lung
34	chr12:49372400-49374000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr12:49372400-49374400	Enhancers	Gastric	stomach
36	chr12:49372400-49374600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr12:49372400-49374800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:49372400-49375200	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr12:49372400-49375400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
40	chr12:49372400-49375400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr12:49372400-49375600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr12:49372400-49375600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:49372400-49375600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
44	chr12:49372400-49375600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr12:49372600-49373600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:49372600-49374000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:49372600-49374000	Bivalent/Poised TSS	Aorta	Aorta
48	chr12:49372600-49374400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:49372600-49374600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:49372800-49373800	Bivalent/Poised TSS	Psoas Muscle	Psoas

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