Variant report

Variant	rs2562728
Chromosome Location	chr7:128094322-128094323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 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	SP1	chr7:128094297-128094844	H1-hESC	embryonic stem cell:	n/a	chr7:128094639-128094650 chr7:128094668-128094679 chr7:128094595-128094606 chr7:128094597-128094606
3	POLR2A	chr7:128093974-128096870	PANC-1	pancreas:	n/a	n/a
4	MXI1	chr7:128094080-128096815	IMR90	lung:	n/a	n/a
5	MXI1	chr7:128093796-128096847	SK-N-SH	brain:	n/a	n/a
6	KAP1	chr7:128094237-128094755	HEK293	kidney:	n/a	n/a
7	POLR2A	chr7:128094177-128094997	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:128094281-128094946	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr7:128094093-128094951	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128077598..128080477-chr7:128092228..128095663,3	K562	blood:
2	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
3	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
4	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
5	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
6	chr7:128038192..128041556-chr7:128094283..128098008,3	MCF-7	breast:
7	chr7:128090220..128093151-chr7:128093221..128095086,2	K562	blood:
8	chr7:128094286..128097516-chr7:128115288..128118444,4	K562	blood:
9	chr7:128083686..128086427-chr7:128093165..128095584,3	K562	blood:

No data

Variant related genes	Relation type
HILPDA	TF binding region
ENSG00000273184	TF binding region
ENSG00000240758	TF binding region
ENSG00000238750	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000165055	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]
rs2562729	1.00[AMR][1000 genomes]
rs2562739	1.00[AMR][1000 genomes]
rs2732383	1.00[AMR][1000 genomes]
rs2732390	1.00[AMR][1000 genomes]
rs2732391	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:91 , 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	chr7:128093600-128095200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:128093600-128095400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:128093800-128094400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:128093800-128094400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:128093800-128094400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128093800-128094400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:128093800-128094400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:128093800-128094400	Enhancers	Liver	Liver
23	chr7:128093800-128094400	Enhancers	Brain Anterior Caudate	brain
24	chr7:128093800-128094400	Enhancers	Fetal Muscle Leg	muscle
25	chr7:128093800-128094400	Enhancers	Pancreas	Pancrea
26	chr7:128093800-128094400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:128093800-128094400	Enhancers	NHLF	lung
28	chr7:128093800-128094600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:128093800-128094600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr7:128093800-128094600	Enhancers	Aorta	Aorta
31	chr7:128093800-128094600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:128093800-128094600	Enhancers	Spleen	Spleen
33	chr7:128093800-128094800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:128093800-128094800	Enhancers	Colon Smooth Muscle	Colon
35	chr7:128093800-128094800	Enhancers	Placenta	Placenta
36	chr7:128093800-128094800	Enhancers	Ovary	ovary
37	chr7:128093800-128094800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:128093800-128094800	Enhancers	Right Atrium	heart
39	chr7:128093800-128094800	Enhancers	Right Ventricle	heart
40	chr7:128093800-128095000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:128093800-128095000	Flanking Active TSS	HSMMtube	muscle
42	chr7:128093800-128095200	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:128093800-128095200	Enhancers	Brain Substantia Nigra	brain
44	chr7:128093800-128095200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:128093800-128095200	Enhancers	A549	lung
46	chr7:128093800-128095200	Enhancers	NHDF-Ad	bronchial
47	chr7:128093800-128095400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:128093800-128095400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:128093800-128095400	Enhancers	Small Intestine	intestine
50	chr7:128093800-128095400	Enhancers	Stomach Mucosa	stomach

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