Variant report

Variant	rs4980993
Chromosome Location	chr12:121764799-121764800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121764508..121766077-chr12:121766394..121768501,2	MCF-7	breast:
2	chr12:121756024..121757655-chr12:121764676..121766402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10744759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169804	1.00[CEU][hapmap]
rs1617736	0.80[GIH][hapmap]
rs2089886	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686367	1.00[CEU][hapmap]
rs2942076	0.80[GIH][hapmap]
rs4980985	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133933	0.83[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];0.83[EUR][1000 genomes]
rs7971785	1.00[CEU][hapmap]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
2	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
3	chr12:121751200-121785600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:121751400-121785800	Strong transcription	Fetal Thymus	thymus
5	chr12:121752000-121785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:121752000-121787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121752400-121776000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr12:121753200-121786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:121753400-121786000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:121753800-121775600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:121754000-121767800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:121754000-121768200	Strong transcription	Liver	Liver
13	chr12:121754000-121769000	Strong transcription	Fetal Intestine Large	intestine
14	chr12:121754000-121770400	Strong transcription	Primary T cells from cord blood	blood
15	chr12:121754000-121776000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:121754000-121785600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:121754000-121785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:121754000-121786000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:121754400-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:121754600-121764800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:121754600-121772400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:121754800-121765000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:121754800-121769000	Strong transcription	Fetal Intestine Small	intestine
24	chr12:121754800-121772400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:121754800-121775600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:121754800-121784800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:121754800-121784800	Strong transcription	Fetal Stomach	stomach
28	chr12:121755600-121772000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:121756400-121764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:121756400-121765000	Weak transcription	Psoas Muscle	Psoas
31	chr12:121757000-121768200	Weak transcription	Small Intestine	intestine
32	chr12:121757400-121772400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121757800-121776200	Strong transcription	Thymus	Thymus
34	chr12:121758000-121768000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:121758200-121764800	Strong transcription	Lung	lung
36	chr12:121758200-121772200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:121759800-121786400	Strong transcription	Dnd41	blood
38	chr12:121760200-121775600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:121760200-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:121760200-121785800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:121760200-121786000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:121760400-121766600	Strong transcription	Fetal Brain Female	brain
43	chr12:121760400-121769400	Strong transcription	Gastric	stomach
44	chr12:121760400-121772400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:121760400-121773200	Strong transcription	GM12878-XiMat	blood
46	chr12:121760400-121776400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr12:121760600-121767000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr12:121760600-121772000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:121760600-121776000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:121760600-121784400	Strong transcription	Left Ventricle	heart

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