Variant report

Variant	rs12219065
Chromosome Location	chr10:99427289-99427290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99426144..99428335-chr10:99429766..99431937,2	K562	blood:
2	chr10:99419325..99420871-chr10:99424759..99427344,2	MCF-7	breast:
3	chr10:99425999..99428953-chr10:99433679..99435549,2	MCF-7	breast:
4	chr10:99424456..99427372-chr10:99495291..99497300,2	MCF-7	breast:
5	chr10:99411281..99413189-chr10:99425892..99427506,2	MCF-7	breast:
6	chr10:99426397..99429195-chr22:30427299..30429997,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155256	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10882983	0.96[EUR][1000 genomes]
rs10882987	0.91[EUR][1000 genomes]
rs11189312	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189321	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11189324	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049715	0.91[EUR][1000 genomes]
rs2065671	0.96[EUR][1000 genomes]
rs2065672	0.96[EUR][1000 genomes]
rs3818780	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4291605	0.95[EUR][1000 genomes]
rs45491602	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57574145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072085	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1045292	chr10:99411153-99450861	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99401800-99443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:99402000-99444600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:99408600-99433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:99409200-99444800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:99409400-99445800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:99410200-99431800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:99410400-99436200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:99410400-99436200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:99410600-99431200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:99411000-99437000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:99411600-99433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:99411600-99437800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:99412800-99429000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:99413000-99433400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:99413200-99433600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:99416800-99428800	Weak transcription	Psoas Muscle	Psoas
17	chr10:99419400-99433600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:99420400-99429400	Strong transcription	HMEC	breast
19	chr10:99420600-99429000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:99420600-99431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:99420800-99436200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr10:99421000-99427600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr10:99421000-99428400	Strong transcription	NHDF-Ad	bronchial
24	chr10:99421000-99431800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:99421000-99433600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:99421200-99430600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:99421200-99431000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:99421200-99431200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:99421200-99431600	Strong transcription	NHEK	skin
30	chr10:99421200-99433600	Strong transcription	Osteobl	bone
31	chr10:99421200-99433800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:99421200-99436200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr10:99421400-99429600	Strong transcription	Brain Hippocampus Middle	brain
34	chr10:99421400-99429800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:99421400-99430400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr10:99421400-99430600	Genic enhancers	Fetal Intestine Small	intestine
37	chr10:99421600-99428000	Strong transcription	Colon Smooth Muscle	Colon
38	chr10:99421600-99428400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:99421600-99429000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:99421600-99429600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr10:99421600-99429600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr10:99421600-99429800	Strong transcription	Dnd41	blood
43	chr10:99421600-99431200	Strong transcription	Fetal Muscle Leg	muscle
44	chr10:99421600-99431200	Strong transcription	Fetal Thymus	thymus
45	chr10:99421600-99433600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:99421600-99435800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:99421600-99440400	Strong transcription	Fetal Stomach	stomach
48	chr10:99421800-99430600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:99421800-99431200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr10:99421800-99435800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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