Variant report

Variant	rs7700312
Chromosome Location	chr5:89758332-89758333
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	chr5:89756514..89762466-chr5:89767324..89771935,8	K562	blood:
2	chr5:89752454..89759037-chr5:89767298..89771861,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10054133	0.95[ASN][1000 genomes]
rs2914673	0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2963695	0.97[ASN][1000 genomes]
rs2963696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2972966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3112538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs35113527	0.93[ASN][1000 genomes]
rs35869007	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4129345	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56833355	1.00[EUR][1000 genomes]
rs58073987	1.00[EUR][1000 genomes]
rs73188475	1.00[EUR][1000 genomes]
rs73190451	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv518131	chr5:89748142-89781594	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv882364	chr5:89748142-89808531	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89734600-89769000	Weak transcription	Pancreas	Pancrea
2	chr5:89736400-89767600	Weak transcription	Hela-S3	cervix
3	chr5:89736400-89768400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:89743800-89767800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:89744200-89759000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:89744400-89768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:89745400-89765800	Weak transcription	A549	lung
8	chr5:89746400-89765200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:89747400-89768600	Weak transcription	NHDF-Ad	bronchial
10	chr5:89747600-89760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:89748000-89768400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:89748200-89759600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:89748400-89768600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:89748600-89768200	Weak transcription	Osteobl	bone
15	chr5:89749200-89768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:89749200-89768800	Weak transcription	Brain Germinal Matrix	brain
17	chr5:89749200-89768800	Weak transcription	Ovary	ovary
18	chr5:89749200-89769000	Weak transcription	Left Ventricle	heart
19	chr5:89749400-89767600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:89749400-89768600	Weak transcription	Fetal Intestine Large	intestine
21	chr5:89749800-89768600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:89750200-89768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:89750600-89759000	Weak transcription	Lung	lung
24	chr5:89750600-89763800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:89750800-89760200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:89750800-89768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:89751200-89758600	Weak transcription	Fetal Brain Female	brain
28	chr5:89751200-89766600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:89751200-89769000	Weak transcription	Spleen	Spleen
30	chr5:89751600-89767600	Weak transcription	Brain Anterior Caudate	brain
31	chr5:89751800-89767600	Weak transcription	Fetal Intestine Small	intestine
32	chr5:89752000-89759800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:89752000-89760000	Weak transcription	Fetal Stomach	stomach
34	chr5:89752000-89769200	Weak transcription	Small Intestine	intestine
35	chr5:89752200-89768400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:89752200-89768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:89752800-89767800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:89752800-89768600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:89753200-89767000	Weak transcription	K562	blood
40	chr5:89753200-89768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:89753800-89758600	Weak transcription	HepG2	liver
42	chr5:89753800-89768400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:89753800-89768600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:89755000-89759800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:89755400-89769000	Weak transcription	HSMM	muscle
46	chr5:89755600-89768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:89755600-89768600	Weak transcription	Primary B cells from cord blood	blood
48	chr5:89756000-89758400	Weak transcription	Aorta	Aorta
49	chr5:89756000-89763800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:89756000-89767800	Weak transcription	Primary B cells from peripheral blood	blood

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