Variant report

Variant	rs7062329
Chromosome Location	chr1:171050910-171050911
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	USF1	chr1:171050578-171050972	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFF	chr1:171050677-171050980	HepG2	liver:	n/a	n/a
3	KAP1	chr1:171050493-171050923	HEK293	kidney:	n/a	n/a
4	MAFK	chr1:171050671-171051030	HepG2	liver:	n/a	chr1:171050854-171050865 chr1:171050853-171050864 chr1:171050852-171050866 chr1:171050854-171050865 chr1:171050849-171050864
5	RAD21	chr1:171050303-171050949	HCT-116	colon:	n/a	n/a
6	CTCF	chr1:171050900-171051050	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr1:171050197-171050989	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr1:171050800-171050950	HPF	lung:	n/a	n/a
9	CTCF	chr1:171050017-171051026	A549	lung:	n/a	n/a
10	MAFK	chr1:171050669-171051017	HepG2	liver:	n/a	chr1:171050854-171050865 chr1:171050853-171050864 chr1:171050852-171050866 chr1:171050854-171050865 chr1:171050849-171050864
11	CTCF	chr1:171050820-171050970	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr1:171050760-171050910	HRE	kidney:	n/a	n/a
13	MAFK	chr1:171050668-171051017	IMR90	lung:	n/a	chr1:171050854-171050865 chr1:171050853-171050864 chr1:171050852-171050866 chr1:171050854-171050865 chr1:171050849-171050864
14	RAD21	chr1:171050341-171050939	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171049785..171051089-chr1:171157506..171158409,9	MCF-7	breast:
2	chr1:171050144..171051119-chr1:171195616..171196435,6	MCF-7	breast:
3	chr1:171050311..171050975-chr1:171195652..171196489,2	MCF-7	breast:
4	chr1:171050389..171052635-chr1:171054264..171056388,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226552	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10911791	0.87[ASN][1000 genomes]
rs13376368	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2064075	1.00[ASN][1000 genomes]
rs28363527	1.00[ASN][1000 genomes]
rs7053382	0.87[ASN][1000 genomes]
rs7879272	0.87[ASN][1000 genomes]
rs7879505	0.87[ASN][1000 genomes]
rs7882773	0.87[ASN][1000 genomes]
rs9663011	0.87[ASN][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171050000-171051000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:171050000-171051000	Enhancers	Brain Germinal Matrix	brain
3	chr1:171050200-171053800	Enhancers	Fetal Intestine Large	intestine
4	chr1:171050400-171051400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:171050600-171051000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:171050600-171051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:171050600-171051000	Enhancers	Brain Hippocampus Middle	brain
8	chr1:171050600-171051000	Enhancers	Fetal Heart	heart
9	chr1:171050600-171051000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:171050600-171051000	Enhancers	Stomach Mucosa	stomach
11	chr1:171050600-171051000	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:171050600-171051000	Enhancers	NH-A	brain
13	chr1:171050600-171051000	Enhancers	NHDF-Ad	bronchial
14	chr1:171050600-171051000	Enhancers	Osteobl	bone
15	chr1:171050600-171051400	Enhancers	Fetal Kidney	kidney
16	chr1:171050600-171051400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:171050600-171051600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:171050600-171051600	Enhancers	Adipose Nuclei	Adipose
19	chr1:171050600-171051600	Active TSS	Aorta	Aorta
20	chr1:171050600-171051800	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:171050600-171051800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:171050600-171052000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:171050600-171052200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:171050600-171052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:171050600-171052800	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:171050600-171053600	Enhancers	Fetal Intestine Small	intestine
27	chr1:171050600-171053600	Enhancers	Fetal Lung	lung
28	chr1:171050800-171051000	Enhancers	Left Ventricle	heart
29	chr1:171050800-171051000	Enhancers	Right Ventricle	heart
30	chr1:171050800-171051200	Enhancers	Ovary	ovary
31	chr1:171050800-171051200	Enhancers	Small Intestine	intestine
32	chr1:171050800-171051200	Enhancers	NHEK	skin
33	chr1:171050800-171051400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:171050800-171051400	Enhancers	Fetal Brain Female	brain
35	chr1:171050800-171051400	Flanking Active TSS	NHLF	lung
36	chr1:171050800-171051600	Flanking Active TSS	Liver	Liver
37	chr1:171050800-171052000	Enhancers	Colon Smooth Muscle	Colon
38	chr1:171050800-171052200	Enhancers	Brain Inferior Temporal Lobe	brain

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