Variant report

Variant	rs17378676
Chromosome Location	chr1:62212604-62212605
allele	C/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	NFE2	chr1:62212440-62212802	K562	blood:	n/a	chr1:62212610-62212619 chr1:62212610-62212620 chr1:62212609-62212624
2	EBF1	chr1:62212584-62212753	GM12878	blood:	n/a	n/a
3	MAFK	chr1:62212429-62212896	HepG2	liver:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620
4	IRF1	chr1:62212334-62212740	K562	blood:	n/a	n/a
5	IRF1	chr1:62212442-62212871	K562	blood:	n/a	n/a
6	BACH1	chr1:62212391-62212869	K562	blood:	n/a	chr1:62212607-62212621
7	MAFK	chr1:62212439-62212797	HepG2	liver:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620
8	FOS	chr1:62212486-62212699	MCF10A-Er-Src	breast:	n/a	chr1:62212609-62212619 chr1:62212610-62212618 chr1:62212608-62212620 chr1:62212610-62212617 chr1:62212610-62212618
9	EP300	chr1:62212466-62212789	K562	blood:	n/a	chr1:62212610-62212619
10	MAFF	chr1:62212441-62212797	HepG2	liver:	n/a	chr1:62212608-62212626
11	MAFK	chr1:62212428-62212955	H1-hESC	embryonic stem cell:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620
12	MAFK	chr1:62212408-62213010	K562	blood:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620
13	BACH1	chr1:62212371-62213011	H1-hESC	embryonic stem cell:	n/a	chr1:62212607-62212621
14	MAFF	chr1:62212422-62212885	K562	blood:	n/a	chr1:62212608-62212626
15	MAFK	chr1:62212424-62212878	IMR90	lung:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620
16	MAFK	chr1:62212344-62212797	Hela-S3	cervix:	n/a	chr1:62212613-62212624 chr1:62212612-62212626 chr1:62212614-62212625 chr1:62212607-62212621 chr1:62212609-62212624 chr1:62212611-62212620 chr1:62212613-62212624 chr1:62212614-62212625 chr1:62212610-62212620

No.	Distal block	Cell Line	Cell type
1	chr1:62210256..62213172-chr1:62219077..62220998,2	MCF-7	breast:
2	chr1:62190119..62191745-chr1:62211453..62213714,2	MCF-7	breast:
3	chr1:62212403..62214118-chr1:62215482..62217138,2	MCF-7	breast:
4	chr1:62209123..62215729-chr1:62217503..62222690,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271200	TF binding region
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11207829	0.81[ASN][1000 genomes]
rs11207830	0.93[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs12040089	0.81[ASN][1000 genomes]
rs1286837	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs1833047	0.83[ASN][1000 genomes]
rs1892022	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs1892023	0.84[ASN][1000 genomes]
rs692227	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551399	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62209200-62213000	Weak transcription	Left Ventricle	heart
2	chr1:62209600-62236200	Weak transcription	Aorta	Aorta
3	chr1:62209800-62219800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:62209800-62228600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:62209800-62228600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:62209800-62232000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:62210000-62223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:62210000-62253400	Weak transcription	Pancreas	Pancrea
9	chr1:62210400-62212800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:62210600-62229200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:62210800-62212800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:62211800-62213200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:62211800-62213200	Enhancers	Fetal Intestine Large	intestine
14	chr1:62211800-62213200	Enhancers	Fetal Intestine Small	intestine
15	chr1:62211800-62213200	Enhancers	HepG2	liver
16	chr1:62211800-62213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:62212000-62212800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:62212000-62213000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:62212000-62213000	Enhancers	Brain Anterior Caudate	brain
20	chr1:62212000-62213000	Enhancers	NHEK	skin
21	chr1:62212000-62213200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:62212000-62213200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:62212000-62213200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:62212000-62213400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:62212000-62213400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:62212000-62213400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:62212000-62213400	Enhancers	Stomach Mucosa	stomach
28	chr1:62212000-62213400	Enhancers	A549	lung
29	chr1:62212000-62230800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62212200-62212800	Enhancers	Fetal Kidney	kidney
31	chr1:62212200-62213000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:62212200-62213000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:62212200-62213200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:62212200-62213200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:62212200-62213200	Enhancers	Hela-S3	cervix
36	chr1:62212200-62213200	Enhancers	NHDF-Ad	bronchial
37	chr1:62212200-62229000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:62212200-62254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:62212400-62212800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:62212400-62212800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:62212400-62213200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:62212400-62214400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:62212600-62212800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:62212600-62212800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:62212600-62212800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:62212600-62212800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:62212600-62212800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:62212600-62212800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:62212600-62212800	Enhancers	HMEC	breast
50	chr1:62212600-62213000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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