Variant report

Variant	rs10779575
Chromosome Location	chr1:212402994-212402995
allele	G/T
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	E2F4	chr1:212402969-212403267	MCF10A-Er-Src	breast:	n/a	n/a
2	EGR1	chr1:212402976-212403333	K562	blood:	n/a	n/a
3	MAX	chr1:212402960-212403299	K562	blood:	n/a	n/a
4	MAZ	chr1:212402950-212403548	IMR90	lung:	n/a	n/a
5	MYC	chr1:212402987-212403326	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr1:212402971-212403298	MCF10A-Er-Src	breast:	n/a	n/a
7	EGR1	chr1:212402934-212403330	K562	blood:	n/a	n/a
8	NR2F2	chr1:212402937-212403330	K562	blood:	n/a	n/a
9	CEBPB	chr1:212402971-212403223	IMR90	lung:	n/a	n/a
10	FOS	chr1:212402990-212403264	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr1:212402974-212403282	SK-N-SH_RA	brain:	n/a	n/a
12	TEAD4	chr1:212402924-212403414	K562	blood:	n/a	n/a
13	TCF12	chr1:212402977-212403500	SK-N-SH	brain:	n/a	n/a
14	FOS	chr1:212402967-212403298	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr1:212402904-212403522	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr1:212402958-212403478	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:

Variant related genes	Relation type
ENSG00000226251	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10863954	0.83[ASN][1000 genomes]
rs11119879	0.83[ASN][1000 genomes]
rs11119883	0.95[ASN][1000 genomes]
rs12028026	0.95[ASN][1000 genomes]
rs12073206	0.95[ASN][1000 genomes]
rs1967114	0.84[ASN][1000 genomes]
rs4558048	0.93[ASN][1000 genomes]
rs6540729	0.95[ASN][1000 genomes]
rs6695681	0.95[ASN][1000 genomes]
rs7530375	0.83[ASN][1000 genomes]
rs7537062	0.95[ASN][1000 genomes]
rs7552021	0.95[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:212399000-212403200	Enhancers	Fetal Heart	heart
3	chr1:212399400-212405200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212399600-212403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:212399600-212404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212399600-212404800	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:212399800-212403200	Weak transcription	Right Ventricle	heart
8	chr1:212399800-212403800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212399800-212405200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:212399800-212406600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:212399800-212407800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:212400000-212404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:212400000-212405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:212400000-212405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:212400000-212405200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:212400000-212405200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212400000-212405200	Weak transcription	Fetal Thymus	thymus
18	chr1:212400000-212407600	Weak transcription	Spleen	Spleen
19	chr1:212400000-212407800	Weak transcription	Right Atrium	heart
20	chr1:212400000-212407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:212400200-212405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:212400200-212406800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:212400600-212404200	Enhancers	Pancreas	Pancrea
24	chr1:212401200-212403000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:212401200-212404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:212401400-212403200	Weak transcription	Small Intestine	intestine
27	chr1:212401400-212408400	Weak transcription	Lung	lung
28	chr1:212401600-212403400	Enhancers	Fetal Intestine Large	intestine
29	chr1:212401600-212403400	Enhancers	Fetal Intestine Small	intestine
30	chr1:212401600-212405000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:212401800-212409000	Weak transcription	Gastric	stomach
32	chr1:212402400-212403800	Enhancers	HepG2	liver
33	chr1:212402400-212404800	Weak transcription	Left Ventricle	heart
34	chr1:212402400-212407800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:212402600-212403000	Weak transcription	NHDF-Ad	bronchial
36	chr1:212402600-212403600	Enhancers	Liver	Liver
37	chr1:212402600-212403600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:212402800-212403200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:212402800-212403600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:212402800-212403600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:212402800-212405800	Enhancers	Stomach Mucosa	stomach

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