Variant report

Variant	rs11121598
Chromosome Location	chr1:10658202-10658203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10656580..10658431-chr1:10672965..10675742,2	K562	blood:
2	chr1:10657418..10659928-chr1:10958878..10962184,3	MCF-7	breast:
3	chr1:10655095..10656837-chr1:10658126..10659763,2	K562	blood:
4	chr1:10653864..10655811-chr1:10657249..10659263,2	MCF-7	breast:
5	chr1:10644062..10646561-chr1:10657195..10659839,2	MCF-7	breast:
6	chr1:10651916..10653632-chr1:10656825..10658419,2	MCF-7	breast:
7	chr1:10657337..10659085-chr1:10685902..10688707,2	MCF-7	breast:
8	chr1:10656392..10660259-chr1:10661740..10664446,4	MCF-7	breast:

No data

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10864464	1.00[ASN][1000 genomes]
rs10864468	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs284265	0.89[EUR][1000 genomes]
rs284267	0.88[EUR][1000 genomes]
rs284283	0.89[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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:10639800-10659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:10644200-10683400	Weak transcription	K562	blood
13	chr1:10650000-10659200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:10650200-10670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:10651200-10659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:10651400-10658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:10651400-10659000	Weak transcription	Dnd41	blood
18	chr1:10651400-10659200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:10651400-10672800	Weak transcription	Thymus	Thymus
20	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:10652000-10659000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:10652000-10659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:10652200-10658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:10652400-10658800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:10652400-10661400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:10652400-10678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:10653400-10660800	Weak transcription	Fetal Heart	heart
28	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:10654200-10658400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:10654800-10661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:10654800-10666200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:10655600-10658800	Enhancers	Right Atrium	heart
34	chr1:10655600-10659600	Enhancers	Fetal Intestine Large	intestine
35	chr1:10655800-10672600	Weak transcription	Right Ventricle	heart
36	chr1:10655800-10677200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:10656000-10658400	Enhancers	Ovary	ovary
38	chr1:10656000-10659200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:10656200-10658400	Enhancers	Fetal Lung	lung
40	chr1:10656200-10658600	Weak transcription	Liver	Liver
41	chr1:10656200-10660000	Strong transcription	Primary T cells from cord blood	blood
42	chr1:10656200-10661400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:10656200-10675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:10656400-10659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:10656400-10660600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:10656400-10661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:10656400-10675000	Weak transcription	GM12878-XiMat	blood
48	chr1:10656600-10658600	Enhancers	Fetal Muscle Leg	muscle
49	chr1:10656600-10658800	Weak transcription	NHEK	skin
50	chr1:10656600-10659000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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