Variant report

Variant	rs61931557
Chromosome Location	chr12:64837871-64837872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:64837730-64838205	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr12:64837756-64838127	K562	blood:	n/a	chr12:64838068-64838078 chr12:64838066-64838079 chr12:64838067-64838084 chr12:64838068-64838079 chr12:64838067-64838079 chr12:64838066-64838079 chr12:64838064-64838078 chr12:64838068-64838082 chr12:64838067-64838079 chr12:64838069-64838080
3	POLR2A	chr12:64837650-64838402	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:64837863-64838138	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:64836873-64847203	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
2	chr12:64816726..64818558-chr12:64835594..64837910,2	MCF-7	breast:
3	chr12:64837277..64839312-chr12:64840297..64842624,2	K562	blood:
4	chr12:64816139..64821484-chr12:64834627..64838551,5	K562	blood:

Variant related genes	Relation type
ENSG00000255566	TF binding region
ENSG00000184575	Chromatin interaction
ENSG00000183735	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	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11837890	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075094	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41292023	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55654954	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55690537	0.91[EUR][1000 genomes]
rs55999447	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56198126	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56326550	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58143737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60358746	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60520114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61396007	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931543	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61931544	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931545	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931550	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931552	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931558	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933191	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933192	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933195	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933196	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933198	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933199	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933200	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933201	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933204	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933205	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61933207	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933211	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933212	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303577	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73120375	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73120383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73122367	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7488918	0.93[AMR][1000 genomes];0.94[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	chr12:64799400-64844600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:64799800-64839600	Weak transcription	Fetal Heart	heart
3	chr12:64800600-64844000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:64800800-64842400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:64801600-64843600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:64802400-64843000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:64802400-64844000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:64802600-64844000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:64802800-64842800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:64802800-64843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:64802800-64843200	Strong transcription	Dnd41	blood
12	chr12:64802800-64844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:64803000-64844200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:64803600-64842000	Strong transcription	NHDF-Ad	bronchial
15	chr12:64803600-64842200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:64803600-64842200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:64803600-64842200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:64803600-64842200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:64803600-64842400	Strong transcription	Hela-S3	cervix
20	chr12:64803600-64843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:64803600-64843000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:64803600-64843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:64803600-64843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:64803800-64839400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:64803800-64842000	Strong transcription	Fetal Intestine Large	intestine
26	chr12:64803800-64842200	Strong transcription	NH-A	brain
27	chr12:64803800-64843000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:64803800-64844200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:64803800-64844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:64804000-64844000	Strong transcription	HSMM	muscle
31	chr12:64804200-64843200	Strong transcription	Liver	Liver
32	chr12:64804200-64843400	Strong transcription	Osteobl	bone
33	chr12:64804800-64842000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:64804800-64843000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr12:64805000-64842800	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:64805400-64842800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:64806800-64843200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:64809400-64842000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:64814600-64840800	Strong transcription	HUVEC	blood vessel
40	chr12:64816200-64838400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:64817400-64842000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:64817400-64842200	Strong transcription	HSMMtube	muscle
43	chr12:64821200-64842800	Strong transcription	GM12878-XiMat	blood
44	chr12:64821200-64844200	Strong transcription	HMEC	breast
45	chr12:64821400-64843200	Strong transcription	NHEK	skin
46	chr12:64821600-64845000	Weak transcription	Stomach Mucosa	stomach
47	chr12:64822000-64844200	Strong transcription	A549	lung
48	chr12:64822200-64842000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:64823000-64842600	Strong transcription	HepG2	liver
50	chr12:64824800-64844000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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