Variant report

Variant	rs2732390
Chromosome Location	chr7:128091994-128091995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128072011..128074476-chr7:128091797..128093938,2	K562	blood:
2	chr7:128090610..128092505-chr7:128094559..128097059,2	MCF-7	breast:
3	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
4	chr7:128090220..128093151-chr7:128093221..128095086,2	K562	blood:
5	chr7:128081326..128084336-chr7:128089297..128092951,3	K562	blood:

Variant related genes	Relation type
ENSG00000228700	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	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]
rs2732391	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	0.88[MKK][hapmap];0.83[YRI][hapmap];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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
3	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128084600-128095800	Weak transcription	Gastric	stomach
5	chr7:128084800-128092000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:128084800-128093600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128084800-128093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:128086400-128095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:128086600-128093800	Weak transcription	Right Atrium	heart
10	chr7:128086800-128093800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:128086800-128093800	Weak transcription	Right Ventricle	heart
12	chr7:128087000-128092000	Weak transcription	A549	lung
13	chr7:128087000-128092400	Weak transcription	K562	blood
14	chr7:128087000-128093400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:128087000-128093600	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:128089000-128093800	Weak transcription	Stomach Mucosa	stomach
17	chr7:128090600-128092200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:128090600-128092200	Active TSS	Adipose Nuclei	Adipose
19	chr7:128090600-128093800	Weak transcription	HSMM	muscle
20	chr7:128090800-128093600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:128090800-128093600	Weak transcription	HSMMtube	muscle
22	chr7:128090800-128094000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:128090800-128094800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:128091000-128093400	Weak transcription	Left Ventricle	heart
25	chr7:128091000-128093600	Weak transcription	Fetal Heart	heart
26	chr7:128091000-128094000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:128091000-128095000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:128091200-128093400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:128091200-128093600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:128091600-128092200	Enhancers	GM12878-XiMat	blood
31	chr7:128091800-128092400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:128091800-128092400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:128091800-128093000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:128091800-128094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:128091800-128094800	Weak transcription	Monocytes-CD14+_RO01746	blood

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