Variant report

Variant	rs10748705
Chromosome Location	chr10:99330813-99330814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr10:99330504-99331143	SH-SY5Y	brain:	n/a	n/a
2	MYC	chr10:99330776-99330830	MCF-7	breast:	n/a	n/a
3	RAD21	chr10:99330390-99332450	SK-N-SH	brain:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
4	SMC3	chr10:99330257-99333212	SK-N-SH	brain:	n/a	chr10:99331517-99331524 chr10:99332174-99332188
5	POLR2A	chr10:99330801-99330842	MCF-7	breast:	n/a	n/a
6	GATA3	chr10:99330469-99330879	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99326572..99328961-chr10:99329833..99332100,2	K562	blood:
2	chr10:99328694..99331523-chr10:99333360..99336351,3	MCF-7	breast:
3	chr10:99330373..99332190-chr5:177631537..177633145,2	MCF-7	breast:
4	chr10:99329733..99337149-chr10:99338392..99346753,19	MCF-7	breast:
5	chr10:99256533..99260506-chr10:99329939..99335950,10	MCF-7	breast:
6	chr10:99311940..99314624-chr10:99329998..99332096,2	MCF-7	breast:
7	chr10:99205743..99208350-chr10:99330121..99333769,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD2	TF binding region
ENSG00000197451	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000249967	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000241935	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10748702	1.00[EUR][1000 genomes]
rs10748703	1.00[EUR][1000 genomes]
rs10748704	1.00[EUR][1000 genomes]
rs10786357	0.85[EUR][1000 genomes]
rs1417409	0.85[EUR][1000 genomes]
rs2153546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4244322	0.85[EUR][1000 genomes]
rs4917775	0.85[EUR][1000 genomes]
rs4919111	0.85[EUR][1000 genomes]
rs4919112	1.00[EUR][1000 genomes]
rs55831446	1.00[EUR][1000 genomes]
rs6584136	0.80[EUR][1000 genomes]
rs7077652	1.00[EUR][1000 genomes]
rs7081548	0.85[EUR][1000 genomes]
rs7919450	1.00[EUR][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	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99321200-99334600	Weak transcription	HepG2	liver
2	chr10:99322000-99333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:99325400-99332200	Weak transcription	HUVEC	blood vessel
4	chr10:99325600-99334600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:99326000-99332200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:99326000-99334200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:99326400-99334200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:99327000-99334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:99327200-99332200	Weak transcription	Right Atrium	heart
10	chr10:99327200-99334600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:99327600-99331000	Strong transcription	Pancreas	Pancrea
12	chr10:99327600-99331200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:99327600-99331400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:99327600-99331400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr10:99327600-99331600	Strong transcription	Lung	lung
16	chr10:99327600-99332200	Strong transcription	Spleen	Spleen
17	chr10:99327600-99332400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:99327800-99331200	Strong transcription	Adipose Nuclei	Adipose
19	chr10:99327800-99331400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:99327800-99331400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:99327800-99331400	Strong transcription	Right Ventricle	heart
22	chr10:99327800-99331600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:99327800-99331600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:99327800-99331800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:99327800-99331800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr10:99327800-99331800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:99327800-99331800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:99327800-99332000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr10:99327800-99332000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr10:99327800-99334400	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:99328000-99331200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr10:99328000-99331600	Strong transcription	Liver	Liver
33	chr10:99328000-99332000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:99328800-99331000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:99328800-99331200	Weak transcription	Thymus	Thymus
36	chr10:99328800-99331400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr10:99328800-99331800	Strong transcription	Fetal Stomach	stomach
38	chr10:99329000-99331200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr10:99329000-99331400	Strong transcription	Osteobl	bone
40	chr10:99329200-99331400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:99329200-99331800	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr10:99329200-99332200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:99329200-99334000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:99329600-99331400	Weak transcription	NH-A	brain
45	chr10:99329600-99332200	Weak transcription	NHDF-Ad	bronchial
46	chr10:99329600-99334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:99329800-99331000	Enhancers	Psoas Muscle	Psoas
48	chr10:99329800-99331400	Enhancers	HSMM	muscle
49	chr10:99329800-99331600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:99329800-99333000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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