Variant report

Variant	rs74128118
Chromosome Location	chr10:45460102-45460103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr10:45458666-45460146	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:45457577-45464667	GM12878	blood:	n/a	n/a
3	RELA	chr10:45458678-45460336	GM12891	blood:	n/a	n/a
4	POLR2A	chr10:45458708-45460253	GM19099	blood:	n/a	n/a
5	POLR2A	chr10:45458760-45462324	GM12891	blood:	n/a	n/a
6	WRNIP1	chr10:45458658-45462963	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:45458224-45466240	HepG2	liver:	n/a	n/a
8	RELA	chr10:45458787-45460119	GM19099	blood:	n/a	n/a
9	POLR2A	chr10:45458764-45460182	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:45459370-45460111	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr10:45458777-45460354	GM12878	blood:	n/a	n/a
12	EP300	chr10:45458711-45460161	GM12878	blood:	n/a	n/a
13	CHD2	chr10:45458868-45460278	GM12878	blood:	n/a	n/a
14	MAX	chr10:45459463-45460115	HepG2	liver:	n/a	chr10:45459681-45459690
15	TCF7L2	chr10:45459825-45460279	Hela-S3	cervix:	n/a	n/a
16	PML	chr10:45458845-45460154	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45452754..45457463-chr10:45457605..45460897,6	MCF-7	breast:
2	chr10:45458918..45461425-chr10:45473406..45475614,2	MCF-7	breast:
3	chr10:45459948..45462747-chr10:45463776..45467477,3	MCF-7	breast:
4	chr10:45453904..45457174-chr10:45457388..45460255,4	K562	blood:

No data

Variant related genes	Relation type
TMEM72-AS1	TF binding region
ENSG00000107551	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000273363	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12246223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246550	0.82[AFR][1000 genomes]
rs12258351	1.00[AMR][1000 genomes]
rs12263839	1.00[AMR][1000 genomes]
rs56244069	1.00[AMR][1000 genomes]
rs61203275	1.00[AMR][1000 genomes]
rs74128119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128177	1.00[AMR][1000 genomes]
rs74128187	1.00[AMR][1000 genomes]
rs74128190	1.00[AMR][1000 genomes]
rs74128194	1.00[AMR][1000 genomes]
rs74131510	1.00[AMR][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	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45455400-45462800	Flanking Active TSS	GM12878-XiMat	blood
2	chr10:45455600-45462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
4	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr10:45455800-45460600	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr10:45455800-45461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:45455800-45463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:45455800-45465600	Weak transcription	Ovary	ovary
10	chr10:45456000-45460800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:45456000-45463000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:45456000-45463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:45456200-45460200	Flanking Active TSS	HepG2	liver
14	chr10:45456200-45463200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:45456200-45463600	Weak transcription	Esophagus	oesophagus
16	chr10:45456200-45465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:45456400-45461600	Weak transcription	Osteobl	bone
18	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
19	chr10:45456600-45461400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:45456600-45461600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:45456600-45461800	Weak transcription	HUVEC	blood vessel
22	chr10:45456600-45462800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:45456800-45460400	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr10:45456800-45465200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr10:45456800-45466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:45457000-45461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:45457400-45460400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr10:45458000-45460800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:45458000-45462800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:45458000-45465000	Enhancers	Primary B cells from cord blood	blood
31	chr10:45458200-45460400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:45458200-45460400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:45458200-45462600	Enhancers	Adipose Nuclei	Adipose
34	chr10:45458200-45465000	Enhancers	Thymus	Thymus
35	chr10:45458400-45461200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:45458400-45461400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:45458400-45461400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:45458400-45462000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:45458400-45462200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:45458400-45463000	Enhancers	Fetal Intestine Large	intestine
41	chr10:45458400-45464200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr10:45458400-45464400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:45458400-45464800	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:45458400-45465800	Enhancers	Psoas Muscle	Psoas
45	chr10:45458600-45460200	Enhancers	Lung	lung
46	chr10:45458600-45460200	Enhancers	NH-A	brain
47	chr10:45458600-45462000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:45458800-45460200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:45458800-45460400	Enhancers	Fetal Brain Male	brain
50	chr10:45458800-45460600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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