Variant report

Variant	rs1327548
Chromosome Location	chr10:112652873-112652874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112652792-112653250	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112506144..112507873-chr10:112650774..112653771,2	MCF-7	breast:
2	chr10:112505927..112507177-chr10:112652668..112653930,3	K562	blood:
3	chr10:112638577..112640393-chr10:112651350..112653013,2	MCF-7	breast:
4	chr10:112652067..112654697-chr10:112659923..112661859,2	MCF-7	breast:
5	chr10:112636714..112640059-chr10:112651978..112655187,3	K562	blood:
6	chr10:112650669..112653326-chr10:112662999..112664780,3	K562	blood:
7	chr10:112604453..112606201-chr10:112652367..112654040,2	MCF-7	breast:
8	chr10:112630166..112634091-chr10:112649118..112655902,7	MCF-7	breast:
9	chr10:112652396..112654697-chr10:112656829..112659198,2	MCF-7	breast:
10	chr10:112505510..112506827-chr10:112652844..112654067,6	MCF-7	breast:
11	chr10:112647774..112649360-chr10:112651685..112653252,2	K562	blood:
12	chr10:112631402..112635019-chr10:112652599..112656878,5	K562	blood:
13	chr10:112643990..112646738-chr10:112652299..112655273,2	K562	blood:

No data

Variant related genes	Relation type
MIR4680	TF binding region
ENSG00000214413	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000265827	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10787287	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10787289	0.87[EUR][1000 genomes]
rs10787292	0.91[EUR][1000 genomes]
rs1322995	0.83[EUR][1000 genomes]
rs1410054	0.87[EUR][1000 genomes]
rs1410057	0.91[EUR][1000 genomes]
rs1581886	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17128202	0.88[EUR][1000 genomes]
rs4309090	0.87[EUR][1000 genomes]
rs4918607	0.82[EUR][1000 genomes]
rs6585027	0.87[EUR][1000 genomes]
rs7067540	0.80[EUR][1000 genomes]
rs7072816	0.87[EUR][1000 genomes]
rs7082572	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7086350	0.87[EUR][1000 genomes]
rs7088364	0.81[EUR][1000 genomes]
rs7095404	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7101075	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7895872	0.84[EUR][1000 genomes]
rs7899762	0.81[EUR][1000 genomes]
rs7917192	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678000	Weak transcription	Lung	lung
2	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
3	chr10:112633200-112656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:112633200-112656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:112633400-112662000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:112633600-112653800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr10:112633600-112655200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:112633800-112659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:112634000-112655000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:112634000-112655800	Weak transcription	Psoas Muscle	Psoas
11	chr10:112634000-112656000	Weak transcription	Right Ventricle	heart
12	chr10:112634000-112662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:112634200-112655800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:112634600-112656600	Weak transcription	NHEK	skin
15	chr10:112634800-112661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:112634800-112677400	Weak transcription	HUVEC	blood vessel
17	chr10:112635400-112657000	Strong transcription	HSMM	muscle
18	chr10:112635400-112661800	Strong transcription	Placenta	Placenta
19	chr10:112635600-112660600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:112635600-112662200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:112635600-112663400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr10:112635800-112662200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:112636000-112664400	Strong transcription	Fetal Thymus	thymus
24	chr10:112636200-112656200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:112636400-112664800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr10:112637400-112656200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:112639200-112661000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:112641800-112655200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:112642200-112655000	Weak transcription	Aorta	Aorta
30	chr10:112643000-112667200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:112644000-112653200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:112644000-112655000	Weak transcription	Small Intestine	intestine
33	chr10:112644000-112664000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:112644200-112653200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:112644200-112653200	Weak transcription	Fetal Heart	heart
36	chr10:112644200-112655000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:112644200-112655200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr10:112644200-112656600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:112644200-112656800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:112644200-112656800	Weak transcription	Gastric	stomach
41	chr10:112644200-112663200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:112644200-112664400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:112644200-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:112644800-112655200	Weak transcription	Ovary	ovary
45	chr10:112644800-112664800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr10:112644800-112675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:112645000-112655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:112645000-112655600	Weak transcription	Left Ventricle	heart
49	chr10:112645000-112655800	Weak transcription	Fetal Intestine Small	intestine
50	chr10:112645000-112657000	Weak transcription	Esophagus	oesophagus

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