Variant report

Variant	rs55929316
Chromosome Location	chr12:122472016-122472017
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122468999..122472333-chr12:122516550..122518096,3	MCF-7	breast:
2	chr12:122469735..122472102-chr12:122500091..122502087,2	K562	blood:
3	chr12:122471389..122473549-chr12:122630126..122632348,2	K562	blood:
4	chr12:122471870..122474325-chr12:122611041..122613335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1169076	0.82[ASN][1000 genomes]
rs1169083	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1169084	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1169086	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1169087	0.86[ASN][1000 genomes]
rs1169091	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1179947	0.86[ASN][1000 genomes]
rs1678970	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1814592	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2009257	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2018749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272133	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830121	0.84[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
13	chr12:122462400-122473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:122462400-122473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:122462400-122473200	Weak transcription	Aorta	Aorta
16	chr12:122462400-122473200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
18	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
22	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
23	chr12:122462600-122478000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:122462800-122473000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:122465200-122473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:122466400-122473600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:122466400-122489000	Weak transcription	NHLF	lung
29	chr12:122466800-122472800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:122467000-122472800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:122467000-122480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:122467200-122472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:122467200-122472800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:122467200-122472800	Weak transcription	Brain Germinal Matrix	brain
36	chr12:122467400-122472800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:122467400-122473200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:122467800-122472400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:122467800-122472800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:122467800-122473000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:122467800-122473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:122467800-122478000	Strong transcription	Fetal Intestine Small	intestine
43	chr12:122467800-122488800	Weak transcription	Right Atrium	heart
44	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
45	chr12:122467800-122500200	Strong transcription	Dnd41	blood
46	chr12:122468000-122473000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:122468000-122473200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122468000-122473200	Weak transcription	Liver	Liver
49	chr12:122468000-122473800	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:122468000-122489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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