Variant report

Variant	rs11207825
Chromosome Location	chr1:62212990-62212991
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	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
2	BACH1	chr1:62212371-62213011	H1-hESC	embryonic stem cell:	n/a	chr1:62212607-62212621

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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12074912	1.00[EUR][1000 genomes]
rs12075300	1.00[EUR][1000 genomes]
rs7531930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538547	1.00[EUR][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:54 , 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	chr1:62210600-62229200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:62211800-62213200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:62211800-62213200	Enhancers	Fetal Intestine Large	intestine
12	chr1:62211800-62213200	Enhancers	Fetal Intestine Small	intestine
13	chr1:62211800-62213200	Enhancers	HepG2	liver
14	chr1:62211800-62213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:62212000-62213000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:62212000-62213000	Enhancers	Brain Anterior Caudate	brain
17	chr1:62212000-62213000	Enhancers	NHEK	skin
18	chr1:62212000-62213200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:62212000-62213200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:62212000-62213200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:62212000-62213400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:62212000-62213400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:62212000-62213400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:62212000-62213400	Enhancers	Stomach Mucosa	stomach
25	chr1:62212000-62213400	Enhancers	A549	lung
26	chr1:62212000-62230800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:62212200-62213000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:62212200-62213000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:62212200-62213200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:62212200-62213200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:62212200-62213200	Enhancers	Hela-S3	cervix
32	chr1:62212200-62213200	Enhancers	NHDF-Ad	bronchial
33	chr1:62212200-62229000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:62212200-62254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:62212400-62213200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:62212400-62214400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:62212600-62213000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:62212600-62213000	Flanking Active TSS	Liver	Liver
39	chr1:62212600-62213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:62212600-62213200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:62212600-62213200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:62212600-62213200	Enhancers	Brain Substantia Nigra	brain
43	chr1:62212600-62213200	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:62212600-62213400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:62212600-62213400	Enhancers	Colon Smooth Muscle	Colon
46	chr1:62212800-62213000	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:62212800-62213000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:62212800-62213000	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:62212800-62213200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:62212800-62213200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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