Variant report

Variant	rs7101278
Chromosome Location	chr10:97020612-97020613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97007670..97009998-chr10:97020607..97023208,2	K562	blood:
2	chr10:97007090..97010166-chr10:97019600..97021879,3	MCF-7	breast:
3	chr10:97019128..97021944-chr10:97028081..97030163,2	MCF-7	breast:
4	chr10:97017870..97021906-chr10:97048495..97052362,4	MCF-7	breast:
5	chr10:96990145..96991863-chr10:97020383..97022213,2	MCF-7	breast:
6	chr10:97019690..97021827-chr10:97044842..97047086,2	MCF-7	breast:
7	chr10:97019193..97020732-chr10:97024741..97026574,2	K562	blood:
8	chr10:97018988..97023049-chr10:97048311..97051430,5	MCF-7	breast:
9	chr10:97010783..97013765-chr10:97019245..97021501,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction
ENSG00000234026	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11188253	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11188254	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11596920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11597364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12768190	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296962	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296964	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34566882	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4917682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4918907	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6583987	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7067902	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7068656	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7079728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7087560	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7095761	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7895650	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910388	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7923547	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7101278	PCGF5	cis	cerebellum	SCAN
rs7101278	TMEM20	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
4	chr10:97007000-97026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:97007800-97020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:97009200-97028200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:97009800-97020800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:97015400-97022000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr10:97016200-97022200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:97016200-97023000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:97016400-97023000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:97016400-97026200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:97016800-97036000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:97017200-97024400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:97017400-97022000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:97017600-97022200	Strong transcription	Primary B cells from cord blood	blood
17	chr10:97018000-97024000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:97018600-97020800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:97018800-97023800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr10:97018800-97030000	Weak transcription	Thymus	Thymus
21	chr10:97019200-97023400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:97019200-97023600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:97019200-97024800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:97019400-97021400	Genic enhancers	Duodenum Mucosa	Duodenum
25	chr10:97019400-97026400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:97019600-97024800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:97019800-97021000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:97019800-97021000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:97019800-97021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:97019800-97022000	Genic enhancers	NHDF-Ad	bronchial
31	chr10:97019800-97023600	Genic enhancers	Placenta Amnion	Placenta Amnion
32	chr10:97019800-97023800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:97020000-97021400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:97020000-97021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:97020000-97022000	Enhancers	NHLF	lung
36	chr10:97020000-97022400	Enhancers	Fetal Heart	heart
37	chr10:97020000-97024000	Genic enhancers	Left Ventricle	heart
38	chr10:97020000-97026600	Genic enhancers	Fetal Intestine Large	intestine
39	chr10:97020200-97020800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:97020200-97020800	Genic enhancers	Placenta	Placenta
41	chr10:97020200-97020800	Genic enhancers	Gastric	stomach
42	chr10:97020200-97021000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:97020200-97021000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:97020200-97021000	Genic enhancers	Spleen	Spleen
45	chr10:97020200-97021000	Flanking Active TSS	HSMMtube	muscle
46	chr10:97020200-97021200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:97020200-97021200	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr10:97020200-97021200	Flanking Active TSS	A549	lung
49	chr10:97020200-97021400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:97020200-97021400	Enhancers	Cortex derived primary cultured neurospheres	brain

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