Variant report

Variant	rs74100222
Chromosome Location	chr12:64811918-64811919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64804231..64806720-chr12:64811625..64814288,2	MCF-7	breast:
2	chr12:64808338..64813675-chr12:64816125..64822168,7	MCF-7	breast:
3	chr12:64810412..64813320-chr12:64844705..64846531,3	MCF-7	breast:
4	chr12:64811364..64814549-chr12:64829971..64833473,4	K562	blood:
5	chr12:64811036..64814900-chr12:64817095..64820147,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184575	Chromatin interaction
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11175461	1.00[AMR][1000 genomes]
rs11831818	1.00[AMR][1000 genomes]
rs11834820	1.00[AMR][1000 genomes]
rs12312169	1.00[AMR][1000 genomes]
rs35892030	1.00[AMR][1000 genomes]
rs55806292	1.00[EUR][1000 genomes]
rs56015728	1.00[AMR][1000 genomes]
rs56691393	1.00[EUR][1000 genomes]
rs57378562	1.00[AMR][1000 genomes]
rs58090127	1.00[AMR][1000 genomes]
rs58914823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59167764	1.00[AMR][1000 genomes]
rs60715684	1.00[AMR][1000 genomes]
rs61442177	1.00[AMR][1000 genomes]
rs6581532	1.00[EUR][1000 genomes]
rs73311817	1.00[AMR][1000 genomes]
rs73323059	1.00[AMR][1000 genomes]
rs73323067	1.00[AMR][1000 genomes]
rs74097945	1.00[EUR][1000 genomes]
rs74097962	1.00[EUR][1000 genomes]
rs74097963	1.00[EUR][1000 genomes]
rs74097971	1.00[EUR][1000 genomes]
rs74098400	1.00[AMR][1000 genomes]
rs74100209	1.00[EUR][1000 genomes]
rs74100224	1.00[AMR][1000 genomes]
rs7968227	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449607	chr12:64811837-64812705	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

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	chr12:64799800-64839600	Weak transcription	Fetal Heart	heart
4	chr12:64800200-64819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:64800600-64844000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:64800800-64842400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:64801600-64818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:64801600-64843600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:64802400-64843000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:64802400-64844000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64802600-64817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:64802600-64844000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:64802800-64842800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:64802800-64843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:64802800-64843200	Strong transcription	Dnd41	blood
16	chr12:64802800-64844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:64803000-64812400	Strong transcription	K562	blood
18	chr12:64803000-64844200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:64803400-64819800	Strong transcription	HMEC	breast
20	chr12:64803600-64821200	Strong transcription	HepG2	liver
21	chr12:64803600-64823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64803600-64836200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:64803600-64837400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:64803600-64837600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:64803600-64842000	Strong transcription	NHDF-Ad	bronchial
26	chr12:64803600-64842200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:64803600-64842200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:64803600-64842200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:64803600-64842200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:64803600-64842400	Strong transcription	Hela-S3	cervix
31	chr12:64803600-64843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:64803600-64843000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:64803600-64843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:64803600-64843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:64803800-64812600	Strong transcription	HUVEC	blood vessel
36	chr12:64803800-64828000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:64803800-64829600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:64803800-64831200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:64803800-64834400	Strong transcription	Brain Anterior Caudate	brain
40	chr12:64803800-64836600	Strong transcription	Fetal Thymus	thymus
41	chr12:64803800-64837200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:64803800-64837400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:64803800-64837800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:64803800-64839400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:64803800-64842000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:64803800-64842200	Strong transcription	NH-A	brain
47	chr12:64803800-64843000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:64803800-64844200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:64803800-64844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:64804000-64816600	Strong transcription	A549	lung

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