Variant report

Variant	rs73124835
Chromosome Location	chr1:222818544-222818545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222816312-222818556	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:222816387-222818916	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr1:222816776-222818558	SK-N-SH	brain:	n/a	chr1:222818308-222818323
4	POLR2A	chr1:222816610-222818903	K562	blood:	n/a	n/a
5	SREBP1	chr1:222816253-222818634	GM12878	blood:	n/a	n/a
6	HCFC1	chr1:222816533-222818604	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222814795..222819438-chr1:222884035..222887873,13	K562	blood:
2	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
3	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:
4	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
5	chr1:222816933..222819100-chr1:222834674..222837406,2	K562	blood:
6	chr1:222815720..222818727-chr1:222847963..222850560,3	K562	blood:
7	chr1:222815622..222820703-chr1:222883498..222888165,14	K562	blood:
8	chr1:222560163..222562187-chr1:222816879..222819100,2	K562	blood:
9	chr1:222817680..222819791-chr1:222885041..222887043,2	MCF-7	breast:
10	chr1:222817247..222819039-chr1:222835684..222838634,2	MCF-7	breast:
11	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
12	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
13	chr1:222816842..222820047-chr1:222820781..222823646,5	K562	blood:
14	chr1:222817285..222820043-chr1:222820783..222823555,3	K562	blood:
15	chr1:222762853..222764726-chr1:222816205..222818798,3	MCF-7	breast:

No data

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000229399	TF binding region
ENSG00000154305	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000272750	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000236230	Chromatin interaction
ENSG00000225265	Chromatin interaction
ENSG00000186063	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73124819	0.93[AFR][1000 genomes]
rs73124830	0.93[AFR][1000 genomes]
rs73124833	1.00[AFR][1000 genomes]
rs73124836	0.93[AFR][1000 genomes]
rs73124838	0.93[AFR][1000 genomes]
rs73124844	0.93[AFR][1000 genomes]
rs73124845	0.93[AFR][1000 genomes]
rs73124852	1.00[AFR][1000 genomes]
rs73124859	0.93[AFR][1000 genomes]
rs73124860	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:222816600-222818600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:222816600-222818600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:222816600-222818600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:222816800-222818600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:222816800-222818600	Active TSS	Fetal Intestine Large	intestine
6	chr1:222816800-222818600	Active TSS	Thymus	Thymus
7	chr1:222816800-222818600	Active TSS	HSMMtube	muscle
8	chr1:222816800-222818600	Active TSS	K562	blood
9	chr1:222816800-222818800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:222816800-222818800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:222816800-222818800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:222816800-222818800	Active TSS	NHLF	lung
13	chr1:222817000-222818600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:222817000-222818600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:222817000-222818600	Active TSS	HMEC	breast
16	chr1:222817200-222818600	Active TSS	Fetal Thymus	thymus
17	chr1:222817200-222818600	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:222817800-222818800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:222817800-222818800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:222817800-222818800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222817800-222819000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:222818000-222818600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:222818000-222818600	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr1:222818000-222818800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:222818000-222818800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:222818000-222818800	Flanking Active TSS	Fetal Lung	lung
27	chr1:222818000-222818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:222818000-222818800	Flanking Active TSS	Osteobl	bone
29	chr1:222818000-222819000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:222818000-222819000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:222818000-222819000	Flanking Active TSS	Liver	Liver
32	chr1:222818000-222819000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:222818000-222819000	Flanking Active TSS	Dnd41	blood
34	chr1:222818200-222818600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:222818200-222818600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr1:222818200-222818600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:222818200-222818600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:222818200-222818600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:222818200-222818600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr1:222818200-222818600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:222818200-222818600	Flanking Active TSS	Fetal Brain Female	brain
42	chr1:222818200-222818600	Flanking Active TSS	HUVEC	blood vessel
43	chr1:222818200-222818600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:222818200-222818800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:222818200-222818800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:222818200-222818800	Enhancers	Fetal Heart	heart
47	chr1:222818200-222818800	Flanking Active TSS	Hela-S3	cervix
48	chr1:222818200-222818800	Flanking Active TSS	NH-A	brain
49	chr1:222818200-222818800	Flanking Active TSS	NHEK	skin
50	chr1:222818200-222819000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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