Variant report

Variant	rs28376745
Chromosome Location	chr12:122604846-122604847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122515416..122518266-chr12:122602953..122606847,3	MCF-7	breast:
2	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
3	chr12:122601261..122606063-chr12:122607168..122609213,4	K562	blood:
4	chr12:122522242..122525076-chr12:122602763..122605523,2	MCF-7	breast:
5	chr12:122500849..122505049-chr12:122602571..122607849,6	K562	blood:
6	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28530722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57376797	0.80[AFR][1000 genomes]
rs58111134	0.85[AFR][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	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	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122593400-122607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:122593600-122606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:122593600-122606200	Weak transcription	HUVEC	blood vessel
9	chr12:122593600-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:122593600-122607600	Weak transcription	NHLF	lung
11	chr12:122594600-122607600	Weak transcription	Left Ventricle	heart
12	chr12:122596200-122605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:122596200-122606600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122596200-122607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:122596800-122606200	Weak transcription	Osteobl	bone
16	chr12:122596800-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:122596800-122607600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:122597600-122607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:122598200-122607600	Weak transcription	Placenta	Placenta
20	chr12:122599000-122607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
22	chr12:122599200-122606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:122599200-122606400	Weak transcription	Right Atrium	heart
24	chr12:122599200-122607600	Weak transcription	HepG2	liver
25	chr12:122599200-122607600	Weak transcription	NHEK	skin
26	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:122599400-122606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
29	chr12:122601400-122607600	Weak transcription	Right Ventricle	heart
30	chr12:122601800-122606000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:122601800-122606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:122601800-122607400	Weak transcription	Esophagus	oesophagus
33	chr12:122602000-122605200	Weak transcription	Psoas Muscle	Psoas
34	chr12:122602000-122606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:122602000-122606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:122602000-122606400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:122602000-122606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:122602000-122607400	Weak transcription	Fetal Intestine Large	intestine
39	chr12:122602000-122607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:122602200-122605200	Weak transcription	Colonic Mucosa	Colon
41	chr12:122602200-122605200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:122602200-122606000	Weak transcription	Thymus	Thymus
43	chr12:122602200-122606400	Weak transcription	Spleen	Spleen
44	chr12:122602200-122607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:122602600-122607400	Weak transcription	Dnd41	blood
46	chr12:122602600-122607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:122602800-122605800	Strong transcription	Fetal Intestine Small	intestine
48	chr12:122602800-122606000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:122602800-122606000	Weak transcription	Fetal Thymus	thymus
50	chr12:122602800-122606000	Weak transcription	Rectal Mucosa Donor 29	rectum

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