Variant report

Variant	rs2291236
Chromosome Location	chr5:17228908-17228909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17223199..17226233-chr5:17226952..17230155,3	MCF-7	breast:
2	chr5:17215492..17217990-chr5:17227890..17230551,3	MCF-7	breast:
3	chr5:17219335..17222848-chr5:17226972..17230280,3	MCF-7	breast:
4	chr5:17228011..17230721-chr5:17231022..17233050,3	MCF-7	breast:
5	chr5:17223694..17225460-chr5:17227873..17230448,2	K562	blood:

Variant related genes	Relation type
ENSG00000176788	Chromatin interaction
ENSG00000215196	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1105298	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2242415	0.81[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4288115	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs62348040	0.96[ASN][1000 genomes]
rs7733967	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17219800-17231800	Weak transcription	Fetal Kidney	kidney
2	chr5:17219800-17233600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:17220400-17229400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:17222800-17239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:17223200-17235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:17223400-17229400	Weak transcription	Fetal Thymus	thymus
7	chr5:17223600-17230400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:17224400-17233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:17225200-17231800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:17225400-17231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:17225600-17232600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:17225600-17241600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:17225800-17229000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:17225800-17229200	Weak transcription	Spleen	Spleen
15	chr5:17225800-17229400	Weak transcription	Placenta	Placenta
16	chr5:17225800-17229400	Weak transcription	Fetal Stomach	stomach
17	chr5:17225800-17232400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:17226000-17229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:17227800-17229600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:17227800-17229600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:17227800-17229800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:17227800-17229800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:17227800-17229800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:17227800-17229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:17227800-17229800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:17227800-17229800	Genic enhancers	Hela-S3	cervix
27	chr5:17227800-17229800	Enhancers	HMEC	breast
28	chr5:17227800-17229800	Genic enhancers	HSMM	muscle
29	chr5:17227800-17229800	Genic enhancers	NH-A	brain
30	chr5:17227800-17229800	Enhancers	NHDF-Ad	bronchial
31	chr5:17227800-17229800	Genic enhancers	Osteobl	bone
32	chr5:17227800-17230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:17227800-17232800	Weak transcription	Gastric	stomach
34	chr5:17227800-17233400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:17227800-17234400	Enhancers	Fetal Brain Male	brain
36	chr5:17228000-17229000	Genic enhancers	Fetal Brain Female	brain
37	chr5:17228000-17229400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr5:17228000-17229600	Transcr. at gene 5' and 3'	A549	lung
39	chr5:17228000-17229800	Genic enhancers	Primary B cells from cord blood	blood
40	chr5:17228000-17229800	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr5:17228000-17229800	Genic enhancers	NHLF	lung
42	chr5:17228000-17230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:17228200-17229000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:17228200-17229200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:17228200-17229400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:17228200-17229800	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:17228200-17229800	Flanking Active TSS	GM12878-XiMat	blood
48	chr5:17228200-17229800	Enhancers	HUVEC	blood vessel
49	chr5:17228200-17232600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:17228400-17229200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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