Variant report

Variant	rs11954014
Chromosome Location	chr5:36624602-36624603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:96897488..96899561-chr5:36624263..36625763,2	MCF-7	breast:
2	chr5:36624162..36627070-chr5:36629917..36632290,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259275	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10941306	0.81[CEU][hapmap]
rs11957945	0.86[ASN][1000 genomes]
rs12518875	0.90[ASN][1000 genomes]
rs12659371	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13166160	0.80[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1366632	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1864213	0.88[CEU][hapmap]
rs1864214	0.88[CEU][hapmap]
rs2033267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115522	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34789636	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3776569	0.90[JPT][hapmap]
rs4869486	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4869677	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
3	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
5	chr5:36614000-36629600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:36615000-36629600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:36615200-36627600	Weak transcription	Adipose Nuclei	Adipose
8	chr5:36615400-36630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:36615400-36630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:36615800-36629800	Weak transcription	Placenta	Placenta
11	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
12	chr5:36618200-36629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:36619200-36629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:36619400-36629200	Weak transcription	Hela-S3	cervix
15	chr5:36619600-36627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:36619600-36629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:36619600-36630000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:36619800-36629000	Weak transcription	HMEC	breast
19	chr5:36619800-36629800	Weak transcription	NHEK	skin
20	chr5:36620600-36627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:36620600-36628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:36620600-36630000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:36620600-36633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:36620800-36629800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:36620800-36629800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:36620800-36638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:36621600-36634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:36622400-36625800	Weak transcription	Fetal Heart	heart
29	chr5:36622400-36626400	Enhancers	Brain Hippocampus Middle	brain
30	chr5:36622400-36627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:36622400-36629800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:36622800-36629600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:36623200-36624800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:36623400-36624800	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:36623400-36625000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:36623400-36626600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:36624000-36624800	Enhancers	Brain Anterior Caudate	brain
38	chr5:36624000-36624800	Enhancers	Left Ventricle	heart
39	chr5:36624000-36625200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:36624000-36626600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:36624200-36624800	Strong transcription	HSMM	muscle
42	chr5:36624200-36625200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:36624200-36625200	Enhancers	Brain Angular Gyrus	brain
44	chr5:36624200-36630600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:36624400-36624800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:36624400-36624800	Enhancers	Right Atrium	heart
47	chr5:36624400-36624800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:36624400-36630000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:36624600-36624800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:36624600-36624800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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