Variant report

Variant	rs60520114
Chromosome Location	chr12:64807229-64807230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64805977..64807878-chr12:64843024..64845293,2	K562	blood:
2	chr12:64805857..64808652-chr12:65088960..65090707,2	MCF-7	breast:
3	chr12:64805923..64808172-chr12:64825524..64827530,2	K562	blood:
4	chr12:64805953..64807746-chr12:64828449..64831352,2	MCF-7	breast:
5	chr12:64807200..64807700-chr2:85765894..85766750,2	Hela-S3	cervix:
6	chr12:64806920..64809518-chr12:64844949..64847492,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268028	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11829120	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11837890	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075094	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41292023	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55654954	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55690537	0.89[EUR][1000 genomes]
rs55999447	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56198126	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56326550	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58143737	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60358746	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61396007	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931543	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61931544	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931545	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931549	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931550	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931555	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931557	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931558	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933191	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933192	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933195	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933196	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933198	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933199	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933200	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933201	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933202	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933204	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933205	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61933207	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933209	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933211	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933212	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303577	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73120375	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73120383	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73122367	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7488918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64799200-64821200	Weak transcription	Stomach Mucosa	stomach
2	chr12:64799400-64844600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:64799600-64810400	Weak transcription	Colonic Mucosa	Colon
4	chr12:64799800-64839600	Weak transcription	Fetal Heart	heart
5	chr12:64800200-64819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:64800600-64844000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:64800800-64842400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:64801400-64809800	Weak transcription	Fetal Brain Male	brain
9	chr12:64801600-64818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:64801600-64843600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:64802400-64843000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:64802400-64844000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:64802600-64817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:64802600-64844000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:64802800-64842800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:64802800-64843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:64802800-64843200	Strong transcription	Dnd41	blood
18	chr12:64802800-64844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:64803000-64812400	Strong transcription	K562	blood
20	chr12:64803000-64844200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:64803200-64808400	Strong transcription	NHEK	skin
22	chr12:64803400-64819800	Strong transcription	HMEC	breast
23	chr12:64803600-64808400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:64803600-64821200	Strong transcription	HepG2	liver
25	chr12:64803600-64823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:64803600-64836200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:64803600-64837400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:64803600-64837600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:64803600-64842000	Strong transcription	NHDF-Ad	bronchial
30	chr12:64803600-64842200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr12:64803600-64842200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:64803600-64842200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:64803600-64842200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:64803600-64842400	Strong transcription	Hela-S3	cervix
35	chr12:64803600-64843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:64803600-64843000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:64803600-64843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:64803600-64843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:64803800-64808400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:64803800-64808600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:64803800-64812600	Strong transcription	HUVEC	blood vessel
42	chr12:64803800-64828000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:64803800-64829600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:64803800-64831200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:64803800-64834400	Strong transcription	Brain Anterior Caudate	brain
46	chr12:64803800-64836600	Strong transcription	Fetal Thymus	thymus
47	chr12:64803800-64837200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:64803800-64837400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:64803800-64837800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:64803800-64839400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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