Variant report

Variant	rs1422424
Chromosome Location	chr5:167729272-167729273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167728707..167730873-chr5:167742044..167743599,2	MCF-7	breast:
2	chr5:167726541..167728252-chr5:167728625..167731366,2	MCF-7	breast:
3	chr5:167723928..167726382-chr5:167728525..167730726,3	MCF-7	breast:
4	chr5:167726332..167731754-chr5:167740281..167744760,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12655262	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2253028	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2279698	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4976589	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4976590	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59111838	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6555791	0.81[CHB][hapmap]
rs6882872	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167723000-167730400	Weak transcription	Lung	lung
2	chr5:167724200-167731600	Weak transcription	Liver	Liver
3	chr5:167724200-167733200	Weak transcription	Placenta	Placenta
4	chr5:167725200-167729800	Enhancers	Pancreas	Pancrea
5	chr5:167726000-167729400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:167726000-167729400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:167726000-167730600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:167726000-167730800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:167726200-167729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:167726200-167729600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:167726200-167729600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167726200-167729600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:167726200-167729600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:167726200-167730600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:167726400-167729800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:167726800-167730400	Enhancers	HMEC	breast
17	chr5:167726800-167730800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:167727000-167730200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:167727000-167737600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:167727200-167729400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:167727200-167729800	Enhancers	HSMMtube	muscle
22	chr5:167727200-167737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:167727400-167731200	Enhancers	Stomach Mucosa	stomach
24	chr5:167727600-167730800	Weak transcription	GM12878-XiMat	blood
25	chr5:167727600-167742600	Weak transcription	Fetal Brain Female	brain
26	chr5:167727800-167729400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr5:167727800-167729600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:167728000-167730000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:167728000-167730600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:167728000-167733000	Enhancers	Fetal Intestine Small	intestine
31	chr5:167728000-167734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:167728000-167737800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:167728200-167730000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:167728600-167729400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:167728600-167729400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:167728600-167729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:167728600-167729600	Flanking Active TSS	A549	lung
38	chr5:167728600-167729600	Flanking Active TSS	Hela-S3	cervix
39	chr5:167728600-167729800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:167728600-167730000	Enhancers	Fetal Intestine Large	intestine
41	chr5:167728600-167730400	Enhancers	HSMM	muscle
42	chr5:167728600-167731000	Enhancers	NH-A	brain
43	chr5:167728800-167729400	Enhancers	Colonic Mucosa	Colon
44	chr5:167728800-167729400	Enhancers	Fetal Lung	lung
45	chr5:167728800-167729600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:167728800-167729600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr5:167728800-167729800	Enhancers	Fetal Heart	heart
48	chr5:167728800-167730200	Enhancers	Osteobl	bone
49	chr5:167728800-167730800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:167728800-167731000	Enhancers	HepG2	liver

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