Variant report

Variant	rs17387740
Chromosome Location	chr1:78512726-78512727
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	USF2	chr1:78512670-78512858	HepG2	liver:	n/a	n/a
2	SUZ12	chr1:78510446-78512858	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:

Variant related genes	Relation type
ENSG00000213561	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11162410	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11162413	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs12121914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123953	0.93[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12125903	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12140633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819257	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61777265	0.90[EUR][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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78510000-78513200	Active TSS	Pancreas	Pancrea
2	chr1:78510400-78512800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78510400-78513000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:78510400-78513800	Flanking Active TSS	HUVEC	blood vessel
5	chr1:78510600-78512800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:78510600-78513600	Active TSS	Right Atrium	heart
7	chr1:78510800-78512800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:78510800-78513000	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:78511000-78513000	Active TSS	Brain Anterior Caudate	brain
10	chr1:78511000-78513600	Active TSS	Right Ventricle	heart
11	chr1:78511200-78512800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:78511200-78513400	Active TSS	Left Ventricle	heart
13	chr1:78511400-78512800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:78511400-78512800	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:78511400-78512800	Bivalent/Poised TSS	HepG2	liver
16	chr1:78511400-78514400	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:78512000-78512800	Active TSS	Brain Cingulate Gyrus	brain
18	chr1:78512000-78512800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr1:78512000-78513000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:78512200-78512800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr1:78512200-78513000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:78512400-78512800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr1:78512400-78512800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr1:78512400-78512800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr1:78512400-78512800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:78512400-78512800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:78512400-78512800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
28	chr1:78512400-78512800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr1:78512400-78512800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr1:78512400-78512800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
31	chr1:78512400-78512800	Enhancers	HSMM	muscle
32	chr1:78512400-78513000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr1:78512400-78513000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr1:78512400-78513000	Bivalent Enhancer	Fetal Lung	lung
35	chr1:78512400-78513000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:78512400-78513000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:78512400-78513600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:78512600-78512800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:78512600-78512800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:78512600-78512800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr1:78512600-78512800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr1:78512600-78512800	Enhancers	Brain Hippocampus Middle	brain
43	chr1:78512600-78512800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:78512600-78512800	Enhancers	Brain Substantia Nigra	brain
45	chr1:78512600-78512800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr1:78512600-78512800	Active TSS	Psoas Muscle	Psoas
47	chr1:78512600-78513000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:78512600-78513000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr1:78512600-78513000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:78512600-78513000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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