Variant report

Variant	rs2861954
Chromosome Location	chr10:99200144-99200145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99183836..99188749-chr10:99192584..99200160,10	MCF-7	breast:
2	chr10:99198080..99202545-chr10:99204083..99207710,6	MCF-7	breast:
3	chr10:99199076..99202605-chr10:99202848..99205582,6	K562	blood:
4	chr10:99199076..99202558-chr10:99202848..99207629,5	K562	blood:

Variant related genes	Relation type
ENSG00000224474	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10882935	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189213	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12250338	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4919098	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99188600-99200600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:99188600-99201400	Strong transcription	Left Ventricle	heart
3	chr10:99188600-99203200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:99188600-99203200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr10:99188600-99203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:99188600-99203200	Strong transcription	Fetal Muscle Leg	muscle
7	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
10	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
12	chr10:99188800-99200600	Weak transcription	Stomach Mucosa	stomach
13	chr10:99188800-99203000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr10:99188800-99203200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:99188800-99203200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:99188800-99203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:99188800-99203200	Strong transcription	Fetal Intestine Large	intestine
18	chr10:99188800-99203200	Strong transcription	Fetal Stomach	stomach
19	chr10:99188800-99203200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr10:99188800-99203200	Strong transcription	NH-A	brain
21	chr10:99188800-99203400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:99188800-99203400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:99188800-99203800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:99188800-99204000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:99188800-99204200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:99188800-99204200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:99188800-99205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:99189000-99201000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:99189000-99203800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:99189200-99203000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr10:99189200-99203200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr10:99189200-99203200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:99189200-99203200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:99189200-99203200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr10:99189200-99203200	Strong transcription	Placenta	Placenta
36	chr10:99189400-99202000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:99189400-99203000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:99189400-99203200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:99189400-99203200	Strong transcription	Primary T cells from cord blood	blood
40	chr10:99189400-99203200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr10:99189400-99203200	Strong transcription	Thymus	Thymus
42	chr10:99189400-99203400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:99189400-99204200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:99189400-99204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:99189400-99204400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:99189400-99204400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:99189600-99201200	Strong transcription	Fetal Brain Female	brain
48	chr10:99189800-99201400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:99189800-99203200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:99189800-99203200	Strong transcription	Primary monocytes fromperipheralblood	blood

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