Variant report

Variant	rs4980985
Chromosome Location	chr12:121774246-121774247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121770767..121773067-chr12:121773528..121776637,3	K562	blood:
2	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10744759	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744760	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774591	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089886	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980993	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133933	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405752	0.81[AMR][1000 genomes]
rs7963796	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
2	chr12:121751200-121785600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:121751400-121785800	Strong transcription	Fetal Thymus	thymus
4	chr12:121752000-121785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:121752000-121787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121752400-121776000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:121753200-121786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:121753400-121786000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:121753800-121775600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:121754000-121776000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:121754000-121785600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:121754000-121785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:121754000-121786000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:121754400-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:121754800-121775600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:121754800-121784800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:121754800-121784800	Strong transcription	Fetal Stomach	stomach
18	chr12:121757800-121776200	Strong transcription	Thymus	Thymus
19	chr12:121759800-121786400	Strong transcription	Dnd41	blood
20	chr12:121760200-121775600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:121760200-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121760200-121785800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:121760200-121786000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:121760400-121776400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:121760600-121776000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:121760600-121784400	Strong transcription	Left Ventricle	heart
27	chr12:121760800-121775600	Strong transcription	Placenta	Placenta
28	chr12:121760800-121775600	Strong transcription	K562	blood
29	chr12:121760800-121785400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:121761000-121775400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:121761000-121775800	Strong transcription	HepG2	liver
32	chr12:121761000-121776200	Strong transcription	Primary B cells from cord blood	blood
33	chr12:121761200-121775800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:121761400-121775800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:121761400-121785200	Strong transcription	Osteobl	bone
36	chr12:121762800-121785600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:121764200-121776400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121764200-121785400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:121764400-121786200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:121764600-121776000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:121765000-121785600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:121765200-121775600	Strong transcription	HUVEC	blood vessel
43	chr12:121765400-121775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:121765400-121776000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:121765800-121781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:121766200-121776000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:121766400-121785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:121766600-121783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:121766600-121785400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:121766600-121785400	Strong transcription	Fetal Muscle Leg	muscle

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