Variant report

Variant	rs4981002
Chromosome Location	chr12:122028723-122028724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122017945..122023539-chr12:122025012..122028731,5	K562	blood:
2	chr12:121993318..121995830-chr12:122027448..122029552,2	K562	blood:
3	chr12:122014726..122017579-chr12:122028385..122031579,3	MCF-7	breast:
4	chr12:122027393..122030554-chr12:122096277..122098532,3	K562	blood:
5	chr12:122027869..122028793-chr12:122064176..122065035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000089094	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2458403	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2466143	1.00[AMR][1000 genomes]
rs2720032	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720043	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2942369	1.00[AMR][1000 genomes]
rs907694	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122020600-122030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:122020800-122040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122021200-122036000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:122021600-122033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122027600-122028800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:122027600-122029200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr12:122027600-122029200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:122027800-122028800	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:122027800-122028800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr12:122027800-122028800	Flanking Active TSS	Fetal Thymus	thymus
11	chr12:122027800-122028800	Active TSS	Left Ventricle	heart
12	chr12:122027800-122028800	Active TSS	Psoas Muscle	Psoas
13	chr12:122027800-122028800	Enhancers	HMEC	breast
14	chr12:122027800-122029000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:122027800-122029000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:122028200-122028800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:122028200-122028800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:122028200-122028800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:122028200-122028800	Flanking Active TSS	NHEK	skin
20	chr12:122028200-122029000	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr12:122028200-122029000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:122028200-122029200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:122028200-122029200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:122028200-122029200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:122028200-122029200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:122028200-122029200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:122028200-122029200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:122028200-122029200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:122028200-122029200	Flanking Active TSS	Dnd41	blood
30	chr12:122028200-122031800	Enhancers	Placenta	Placenta
31	chr12:122028200-122038800	Weak transcription	Pancreas	Pancrea
32	chr12:122028400-122028800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:122028400-122028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:122028400-122028800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:122028400-122028800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:122028400-122028800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:122028400-122028800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:122028400-122028800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:122028400-122028800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:122028400-122028800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:122028400-122028800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:122028400-122028800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:122028400-122028800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr12:122028400-122028800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:122028400-122028800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr12:122028400-122028800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:122028400-122028800	Flanking Active TSS	Fetal Kidney	kidney
48	chr12:122028400-122028800	Flanking Active TSS	Fetal Lung	lung
49	chr12:122028400-122028800	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr12:122028400-122028800	Flanking Active TSS	Fetal Stomach	stomach

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