Variant report

Variant	rs12491777
Chromosome Location	chr3:133301024-133301025
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133300613..133303098-chr3:133313053..133315447,2	K562	blood:
2	chr3:133300597..133302259-chr3:133371211..133373919,2	K562	blood:
3	chr3:133300041..133302235-chr3:133472033..133474036,2	K562	blood:
4	chr3:133289784..133294200-chr3:133298869..133303316,5	MCF-7	breast:
5	chr3:133300058..133302807-chr3:133305783..133309305,4	MCF-7	breast:
6	chr3:133182951..133184510-chr3:133300267..133301904,2	K562	blood:

Variant related genes	Relation type
ENSG00000091527	Chromatin interaction
ENSG00000163781	Chromatin interaction

rs_ID	r²[population]
rs13088006	0.80[ASN][1000 genomes]
rs3821508	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6781238	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629752	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133294200-133302200	Weak transcription	Pancreas	Pancrea
2	chr3:133294200-133306000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:133294600-133308800	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr3:133294800-133309800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:133295200-133308400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:133295400-133301200	Weak transcription	Spleen	Spleen
7	chr3:133295400-133301400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr3:133295400-133302400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:133295400-133308800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:133295400-133308800	Strong transcription	Fetal Intestine Large	intestine
11	chr3:133295400-133309200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:133295400-133309200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:133295600-133301600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:133295600-133308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:133295600-133309200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:133295600-133309200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:133295600-133309400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:133295600-133310400	Strong transcription	Fetal Stomach	stomach
19	chr3:133297400-133301600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:133297600-133302000	Weak transcription	Right Ventricle	heart
21	chr3:133297600-133302200	Weak transcription	Brain Anterior Caudate	brain
22	chr3:133297600-133302400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:133297600-133308400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr3:133297600-133308600	Strong transcription	Fetal Muscle Leg	muscle
25	chr3:133297600-133308800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:133297600-133309400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:133297600-133309400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:133297600-133310200	Weak transcription	Right Atrium	heart
29	chr3:133297800-133304000	Weak transcription	Stomach Mucosa	stomach
30	chr3:133298000-133301200	Weak transcription	A549	lung
31	chr3:133298000-133301200	Strong transcription	HSMM	muscle
32	chr3:133298000-133301400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:133298000-133302600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:133298000-133302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:133298000-133302800	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:133298000-133304800	Weak transcription	Fetal Brain Male	brain
37	chr3:133298000-133305800	Strong transcription	Fetal Intestine Small	intestine
38	chr3:133298000-133308800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:133298000-133309000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:133298000-133309000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr3:133298200-133301200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:133298200-133301200	Strong transcription	Adipose Nuclei	Adipose
43	chr3:133298200-133301200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:133298200-133301200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:133298200-133301400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:133298200-133301600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:133298200-133301800	Strong transcription	NHEK	skin
48	chr3:133298200-133302200	Weak transcription	Small Intestine	intestine
49	chr3:133298200-133302400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:133298200-133302600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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