Variant report

Variant	rs6894948
Chromosome Location	chr5:112383821-112383822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112256096..112258647-chr5:112382591..112384818,2	K562	blood:
2	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10477487	1.00[CEU][hapmap]
rs35555142	0.83[EUR][1000 genomes]
rs3756600	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4259163	1.00[CEU][hapmap]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs6594664	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6886491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718513	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1817377	chr5:112373682-112389837	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv516887	chr5:112379659-112396174	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
3	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
6	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:112371400-112391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:112372600-112384000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:112374800-112386000	Weak transcription	NHDF-Ad	bronchial
19	chr5:112374800-112386200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
21	chr5:112375200-112384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:112377400-112386400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:112377400-112389000	Weak transcription	Primary T cells from cord blood	blood
24	chr5:112379600-112386400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:112379600-112386400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:112379600-112388800	Weak transcription	Gastric	stomach
27	chr5:112379600-112388800	Weak transcription	Spleen	Spleen
28	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
30	chr5:112379800-112384800	Genic enhancers	Ovary	ovary
31	chr5:112379800-112386200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:112379800-112386400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:112379800-112388800	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112380200-112385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:112381000-112385200	Weak transcription	Fetal Lung	lung
36	chr5:112381600-112385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:112382000-112385400	Strong transcription	Left Ventricle	heart
38	chr5:112382200-112385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:112382400-112384200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:112382400-112384200	Enhancers	Fetal Brain Male	brain
41	chr5:112382600-112384000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr5:112382600-112384000	Genic enhancers	Fetal Stomach	stomach
43	chr5:112382600-112384800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:112382600-112385200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:112382600-112386200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr5:112382600-112387200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:112382600-112387400	Enhancers	Placenta	Placenta
48	chr5:112382800-112384000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:112382800-112384000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:112382800-112384200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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