Variant report

Variant	rs2732394
Chromosome Location	chr7:128096678-128096679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128095158..128096724-chr7:128104393..128107346,2	K562	blood:
2	chr6:30583338..30586020-chr7:128094975..128097321,2	MCF-7	breast:
3	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
4	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
5	chr7:128040454..128042949-chr7:128095892..128097636,2	MCF-7	breast:
6	chr7:128096270..128098008-chr7:128499918..128502821,2	K562	blood:
7	chr17:57695760..57698174-chr7:128094723..128097065,2	MCF-7	breast:
8	chr7:5567965..5570019-chr7:128094692..128097449,2	MCF-7	breast:
9	chr7:128095923..128097516-chr7:128115288..128116864,2	K562	blood:
10	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
11	chr7:128095000..128097525-chr7:128170265..128171989,2	MCF-7	breast:
12	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
13	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
14	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
15	chr7:128038192..128041556-chr7:128094283..128098008,3	MCF-7	breast:
16	chr7:128094286..128097516-chr7:128115288..128118444,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HILPDA-1	chr7:128095957-128096754	NONHSAT123193
2	lnc-HILPDA-1	chr7:128096413-128096754	NONHSAT123194

No data

Variant related genes	Relation type
ENSG00000242588	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000141367	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272601	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10229016	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229394	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10230632	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10230965	1.00[JPT][hapmap]
rs10245559	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10251597	1.00[JPT][hapmap]
rs10271590	0.85[ASN][1000 genomes]
rs1065267	0.83[CEU][hapmap]
rs11770116	1.00[CHB][hapmap]
rs11980741	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12672625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13245629	1.00[JPT][hapmap]
rs1560214	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288548	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288549	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2402895	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2562730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562731	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2562732	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2562733	1.00[JPT][hapmap]
rs2562734	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562740	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2732397	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2732432	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28479078	0.85[ASN][1000 genomes]
rs3097361	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35586323	0.84[ASN][1000 genomes]
rs3958071	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4728108	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731446	0.90[AMR][1000 genomes]
rs4731448	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4731450	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4731453	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4731454	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731455	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5009156	0.85[ASN][1000 genomes]
rs58979384	0.85[ASN][1000 genomes]
rs6467178	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947697	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948333	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6959839	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7797240	0.89[ASN][1000 genomes]
rs930106	0.83[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128093800-128096800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:128094400-128096800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:128094400-128097400	Active TSS	Fetal Kidney	kidney
4	chr7:128094600-128097000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:128094600-128097400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:128094800-128097000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:128094800-128097000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:128095000-128096800	Active TSS	Psoas Muscle	Psoas
9	chr7:128095000-128097000	Active TSS	Ovary	ovary
10	chr7:128095000-128097000	Active TSS	Placenta Amnion	Placenta Amnion
11	chr7:128095000-128097200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:128095200-128096800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:128095200-128096800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:128095200-128097000	Active TSS	Esophagus	oesophagus
15	chr7:128095200-128097200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:128095400-128097200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:128095400-128097200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:128095400-128097200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:128095400-128097400	Active TSS	Brain Anterior Caudate	brain
20	chr7:128095600-128096800	Active TSS	Pancreas	Pancrea
21	chr7:128095600-128097000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:128095600-128097000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr7:128095600-128097000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:128095600-128097000	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:128095600-128097000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:128095600-128097000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:128095600-128097000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:128095600-128097000	Active TSS	Fetal Brain Female	brain
29	chr7:128095600-128097000	Active TSS	Fetal Lung	lung
30	chr7:128095600-128097000	Active TSS	GM12878-XiMat	blood
31	chr7:128095600-128097000	Active TSS	Hela-S3	cervix
32	chr7:128095600-128097000	Active TSS	NHLF	lung
33	chr7:128095600-128097200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:128095600-128097200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:128095600-128097200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:128095600-128097200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:128095600-128097200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:128095600-128097200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:128095600-128097200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:128095600-128097200	Active TSS	A549	lung
41	chr7:128095600-128097200	Active TSS	NHDF-Ad	bronchial
42	chr7:128095800-128096800	Active TSS	Gastric	stomach
43	chr7:128095800-128096800	Active TSS	HSMMtube	muscle
44	chr7:128095800-128097000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:128095800-128097000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:128095800-128097000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:128095800-128097000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:128095800-128097000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:128095800-128097000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:128095800-128097000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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