Variant report

Variant	rs41301599
Chromosome Location	chr10:45477895-45477896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:45476252-45478259	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr10:45476118-45477994	HUVEC	blood vessel:	n/a	n/a
3	SP1	chr10:45476373-45477985	HCT-116	colon:	n/a	n/a
4	POLR2A	chr10:45477476-45477953	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr10:45477803-45478252	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:45477492-45477927	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr10:45475326-45477898	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:45477397-45477969	Gliobla	brain:	n/a	n/a
9	FOS	chr10:45476250-45478049	HUVEC	blood vessel:	n/a	chr10:45476823-45476834
10	POLR2A	chr10:45476156-45478298	U87	brain:	n/a	n/a
11	POLR2A	chr10:45476205-45478182	U87	brain:	n/a	n/a
12	POLR2A	chr10:45477440-45477993	HUVEC	blood vessel:	n/a	n/a
13	JUND	chr10:45476456-45477959	HCT-116	colon:	n/a	n/a
14	TCF12	chr10:45476528-45477933	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr10:45476435-45477953	SK-N-SH	brain:	n/a	n/a
16	MAZ	chr10:45475782-45478019	IMR90	lung:	n/a	chr10:45475954-45475963
17	POLR2A	chr10:45475989-45478887	U87	brain:	n/a	n/a
18	JUND	chr10:45476500-45477969	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr10:45475995-45478881	U87	brain:	n/a	n/a
20	TCF12	chr10:45476425-45478021	SK-N-SH	brain:	n/a	n/a
21	ZNF143	chr10:45477739-45477933	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45472768..45475523-chr10:45475664..45479867,4	MCF-7	breast:
2	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:
3	chr10:45453318..45455327-chr10:45477856..45480219,2	MCF-7	breast:

No data

Variant related genes	Relation type
C10orf10	TF binding region
RASSF4	TF binding region
ENSG00000165507	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11239299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11239305	1.00[AMR][1000 genomes]
rs11239306	1.00[AMR][1000 genomes]
rs11239307	1.00[AMR][1000 genomes]
rs11239308	1.00[AMR][1000 genomes]
rs11239309	1.00[AMR][1000 genomes]
rs12359697	0.95[ASN][1000 genomes]
rs12359954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157322	0.97[ASN][1000 genomes]
rs2274888	0.96[EUR][1000 genomes]
rs35521977	1.00[AMR][1000 genomes]
rs3758399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301601	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41301611	1.00[AMR][1000 genomes]
rs41306544	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41306546	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59381196	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61269477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
2	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45470800-45479400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:45474200-45478200	Enhancers	Esophagus	oesophagus
3	chr10:45474200-45478200	Enhancers	Psoas Muscle	Psoas
4	chr10:45474200-45478400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:45474200-45478800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:45474200-45479000	Enhancers	Stomach Mucosa	stomach
7	chr10:45474200-45479000	Enhancers	HUVEC	blood vessel
8	chr10:45474400-45478000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:45474400-45478200	Enhancers	Fetal Stomach	stomach
10	chr10:45474400-45478400	Enhancers	Right Atrium	heart
11	chr10:45474400-45478600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:45474400-45478800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:45474400-45480000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:45474400-45484000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:45474400-45490800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr10:45474400-45490800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr10:45474600-45478000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:45474600-45478000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr10:45474600-45478400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:45474600-45478400	Enhancers	NHLF	lung
21	chr10:45474600-45483000	Enhancers	Ovary	ovary
22	chr10:45474800-45478000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:45474800-45478000	Enhancers	Placenta	Placenta
24	chr10:45474800-45478400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr10:45474800-45478800	Enhancers	Right Ventricle	heart
26	chr10:45474800-45479000	Enhancers	Left Ventricle	heart
27	chr10:45474800-45482400	Enhancers	Fetal Heart	heart
28	chr10:45474800-45490200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:45475000-45478000	Enhancers	Hela-S3	cervix
30	chr10:45475000-45478400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:45475000-45479000	Weak transcription	Fetal Brain Female	brain
32	chr10:45475000-45485000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr10:45475200-45478000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:45475200-45478000	Enhancers	Rectal Smooth Muscle	rectum
35	chr10:45476200-45480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:45476200-45484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:45476400-45479600	Weak transcription	Brain Germinal Matrix	brain
38	chr10:45476400-45480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:45476400-45480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:45476400-45480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:45476400-45480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:45476400-45481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:45476600-45480400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr10:45476600-45480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:45476600-45480800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr10:45476600-45483800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:45476800-45478400	Enhancers	Liver	Liver
48	chr10:45476800-45480600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:45476800-45480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:45476800-45481000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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