Variant report

Variant	rs2732391
Chromosome Location	chr7:128094142-128094143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr7:128093717-128094785	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:128093974-128096870	PANC-1	pancreas:	n/a	n/a
3	MXI1	chr7:128094080-128096815	IMR90	lung:	n/a	n/a
4	MXI1	chr7:128093796-128096847	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:128094093-128094951	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128077598..128080477-chr7:128092228..128095663,3	K562	blood:
2	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
3	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
4	chr7:128090220..128093151-chr7:128093221..128095086,2	K562	blood:
5	chr7:128083686..128086427-chr7:128093165..128095584,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273184	TF binding region
ENSG00000240758	TF binding region
HILPDA	TF binding region
ENSG00000106348	Chromatin interaction
ENSG00000238590	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10239393	1.00[AMR][1000 genomes]
rs10808232	1.00[AMR][1000 genomes]
rs2060716	1.00[AMR][1000 genomes]
rs2562728	1.00[AMR][1000 genomes]
rs2562729	1.00[AMR][1000 genomes]
rs2562739	1.00[AMR][1000 genomes]
rs2732383	1.00[AMR][1000 genomes]
rs2732390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2732404	1.00[AMR][1000 genomes]
rs2732410	1.00[AMR][1000 genomes]
rs2732411	1.00[AMR][1000 genomes]
rs2732430	1.00[AMR][1000 genomes]
rs28770797	1.00[AMR][1000 genomes]
rs2896406	1.00[AMR][1000 genomes]
rs3993496	1.00[AMR][1000 genomes]
rs4377901	1.00[AMR][1000 genomes]
rs4728119	1.00[AMR][1000 genomes]
rs4728121	1.00[AMR][1000 genomes]
rs4728122	1.00[AMR][1000 genomes]
rs4731499	1.00[AMR][1000 genomes]
rs57829455	1.00[AMR][1000 genomes]
rs6467183	1.00[AMR][1000 genomes]
rs6947542	1.00[AMR][1000 genomes]
rs6950246	1.00[AMR][1000 genomes]
rs6957806	1.00[AMR][1000 genomes]
rs6959989	1.00[AMR][1000 genomes]
rs6975178	1.00[AMR][1000 genomes]
rs6979742	1.00[AMR][1000 genomes]
rs7777883	1.00[AMR][1000 genomes]
rs7786173	1.00[AMR][1000 genomes]
rs9690224	1.00[AMR][1000 genomes]
rs9692127	1.00[AMR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:128084600-128095800	Weak transcription	Gastric	stomach
3	chr7:128086400-128095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128090800-128094800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:128091000-128095000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:128091800-128094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:128091800-128094800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:128092200-128094600	Enhancers	Fetal Intestine Large	intestine
9	chr7:128092200-128095200	Enhancers	HepG2	liver
10	chr7:128092400-128094600	Enhancers	Fetal Intestine Small	intestine
11	chr7:128093000-128095000	Enhancers	K562	blood
12	chr7:128093200-128095200	Enhancers	GM12878-XiMat	blood
13	chr7:128093400-128094400	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:128093400-128094600	Enhancers	Left Ventricle	heart
15	chr7:128093600-128094200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:128093600-128094200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:128093600-128094200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:128093600-128094200	Enhancers	Brain Hippocampus Middle	brain
19	chr7:128093600-128094200	Enhancers	Fetal Lung	lung
20	chr7:128093600-128095200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:128093600-128095400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:128093800-128094200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:128093800-128094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:128093800-128094200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:128093800-128094200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:128093800-128094200	Active TSS	Fetal Brain Male	brain
27	chr7:128093800-128094200	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:128093800-128094200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:128093800-128094200	Enhancers	HSMM	muscle
30	chr7:128093800-128094200	Enhancers	Osteobl	bone
31	chr7:128093800-128094400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr7:128093800-128094400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:128093800-128094400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:128093800-128094400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:128093800-128094400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:128093800-128094400	Enhancers	Liver	Liver
37	chr7:128093800-128094400	Enhancers	Brain Anterior Caudate	brain
38	chr7:128093800-128094400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:128093800-128094400	Enhancers	Pancreas	Pancrea
40	chr7:128093800-128094400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:128093800-128094400	Enhancers	NHLF	lung
42	chr7:128093800-128094600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:128093800-128094600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:128093800-128094600	Enhancers	Aorta	Aorta
45	chr7:128093800-128094600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:128093800-128094600	Enhancers	Spleen	Spleen
47	chr7:128093800-128094800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:128093800-128094800	Enhancers	Colon Smooth Muscle	Colon
49	chr7:128093800-128094800	Enhancers	Placenta	Placenta
50	chr7:128093800-128094800	Enhancers	Ovary	ovary

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