Variant report

Variant	rs8231
Chromosome Location	chr10:99477689-99477690
allele	C/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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99477505..99481349-chr10:99484055..99486700,3	MCF-7	breast:
2	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:
3	chr10:99444102..99447131-chr10:99475724..99478855,3	MCF-7	breast:
4	chr10:99477514..99480441-chr10:99495281..99497954,2	MCF-7	breast:
5	chr10:99476839..99480454-chr10:99481730..99484335,3	K562	blood:
6	chr10:99476464..99480454-chr10:99480682..99484335,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVPI1-1	chr10:99477217-99477902	NONHSAT015881

No data

Variant related genes	Relation type
ENSG00000155256	Chromatin interaction
ENSG00000119986	Chromatin interaction

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

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

rs_ID	r²[population]
rs58039351	1.00[AMR][1000 genomes]
rs60277658	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74152011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74152024	1.00[AFR][1000 genomes];1.00[AMR][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	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	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99473800-99479000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:99474400-99477800	Weak transcription	Liver	Liver
3	chr10:99474800-99478000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:99474800-99478000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:99475000-99478000	Weak transcription	Small Intestine	intestine
6	chr10:99475000-99479400	Weak transcription	Fetal Kidney	kidney
7	chr10:99475200-99478000	Weak transcription	Right Ventricle	heart
8	chr10:99475200-99478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:99475200-99478200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:99475200-99478200	Weak transcription	Pancreas	Pancrea
11	chr10:99475400-99478000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:99475400-99478000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:99475400-99478000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:99475800-99478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:99475800-99479200	Genic enhancers	Colon Smooth Muscle	Colon
16	chr10:99476000-99478000	Genic enhancers	A549	lung
17	chr10:99476000-99478400	Weak transcription	HSMMtube	muscle
18	chr10:99476000-99478800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:99476000-99479600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:99476000-99479600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr10:99476000-99479600	Genic enhancers	Fetal Stomach	stomach
22	chr10:99476200-99477800	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:99476200-99478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr10:99476200-99478000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:99476200-99479200	Genic enhancers	NHLF	lung
26	chr10:99476200-99479600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr10:99476200-99486600	Weak transcription	Ovary	ovary
28	chr10:99476400-99477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:99476400-99477800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
30	chr10:99476400-99478000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:99476400-99478000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:99476400-99478000	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr10:99476400-99478000	Weak transcription	Fetal Brain Female	brain
34	chr10:99476400-99478000	Weak transcription	Right Atrium	heart
35	chr10:99476400-99478200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:99476400-99478400	Strong transcription	Fetal Lung	lung
37	chr10:99476400-99478600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:99476400-99478600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:99476400-99479600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:99476600-99477800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:99476600-99477800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr10:99476600-99477800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:99476600-99477800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:99476600-99477800	Weak transcription	Fetal Brain Male	brain
45	chr10:99476600-99477800	Strong transcription	HSMM	muscle
46	chr10:99476600-99478200	Genic enhancers	HMEC	breast
47	chr10:99476600-99478200	Genic enhancers	NHEK	skin
48	chr10:99476600-99478400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:99476600-99478600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:99476600-99479000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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