Variant report

Variant	rs27311
Chromosome Location	chr5:96505108-96505109
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96504565..96506934-chr5:96511490..96513264,2	K562	blood:

Variant related genes	Relation type
ENSG00000206698	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs30997	0.98[ASN][1000 genomes]
rs31006	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96492200-96510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:96494200-96506600	Weak transcription	Ovary	ovary
4	chr5:96494400-96505200	Weak transcription	Fetal Brain Male	brain
5	chr5:96494400-96510600	Weak transcription	Gastric	stomach
6	chr5:96494400-96515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:96494600-96505200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:96494600-96516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:96494800-96514400	Weak transcription	Fetal Heart	heart
11	chr5:96494800-96515200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:96494800-96516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:96494800-96516400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:96494800-96516400	Strong transcription	Fetal Thymus	thymus
15	chr5:96494800-96516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:96495000-96516000	Strong transcription	Dnd41	blood
17	chr5:96495000-96516200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:96495200-96510200	Weak transcription	Right Ventricle	heart
19	chr5:96495200-96515200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:96495200-96515400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:96495200-96516000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:96495200-96516800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:96495200-96518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:96495400-96516600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:96495600-96506600	Weak transcription	Lung	lung
26	chr5:96495600-96509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:96495600-96515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:96495600-96515800	Strong transcription	Osteobl	bone
29	chr5:96495600-96517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:96495800-96510200	Weak transcription	Thymus	Thymus
31	chr5:96495800-96517400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:96496000-96516800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:96496200-96507600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:96496200-96515200	Strong transcription	NH-A	brain
35	chr5:96496400-96514000	Weak transcription	Aorta	Aorta
36	chr5:96496600-96506800	Weak transcription	Fetal Brain Female	brain
37	chr5:96496600-96507000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:96496600-96514000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:96496600-96515600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:96496600-96516400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:96496800-96511800	Weak transcription	Colonic Mucosa	Colon
42	chr5:96497200-96507600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:96497600-96506400	Strong transcription	Hela-S3	cervix
44	chr5:96497800-96516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:96498000-96508800	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:96498000-96516400	Strong transcription	Placenta	Placenta
47	chr5:96498200-96507000	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:96498400-96506000	Weak transcription	HSMMtube	muscle
49	chr5:96499000-96506000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:96499000-96506800	Weak transcription	Rectal Smooth Muscle	rectum

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