Variant report

Variant	rs72954658
Chromosome Location	chr2:114030600-114030601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114026056..114028346-chr2:114029301..114030897,2	MCF-7	breast:
2	chr2:113996531..113999009-chr2:114030396..114033362,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD4-1	chr2:114023053-114034158	ENSG00000189223.9

Variant related genes	Relation type
ENSG00000258395	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6542125	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542126	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67081417	0.88[ASN][1000 genomes]
rs6758928	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67626501	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558326	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580516	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585510	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595282	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114023200-114039800	Weak transcription	Gastric	stomach
2	chr2:114026600-114033400	Weak transcription	Lung	lung
3	chr2:114026600-114034400	Weak transcription	Pancreas	Pancrea
4	chr2:114030000-114030800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:114030000-114030800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:114030000-114031000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr2:114030200-114030600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:114030200-114030600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr2:114030200-114030800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr2:114030200-114031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:114030200-114031000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:114030200-114031000	Bivalent Enhancer	Primary T cells from cord blood	blood
13	chr2:114030200-114031000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr2:114030200-114031000	Enhancers	HepG2	liver
15	chr2:114030200-114031200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr2:114030200-114033000	Enhancers	A549	lung
17	chr2:114030200-114033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:114030400-114030600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:114030400-114030600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr2:114030400-114030600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr2:114030400-114030600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:114030400-114030600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:114030400-114030600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr2:114030400-114030600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr2:114030400-114030600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:114030400-114030800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr2:114030400-114030800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:114030400-114030800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr2:114030400-114030800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr2:114030400-114030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:114030400-114030800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:114030400-114030800	Active TSS	GM12878-XiMat	blood
33	chr2:114030400-114031000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr2:114030400-114031000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:114030400-114031000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr2:114030400-114031000	Enhancers	HMEC	breast
37	chr2:114030400-114031400	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr2:114030600-114030800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr2:114030600-114030800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:114030600-114030800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:114030600-114030800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr2:114030600-114030800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:114030600-114030800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:114030600-114030800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:114030600-114030800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr2:114030600-114030800	Bivalent Enhancer	Fetal Lung	lung
47	chr2:114030600-114031000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:114030600-114031000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:114030600-114031000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr2:114030600-114031000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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