Variant report

Variant	rs372702
Chromosome Location	chr5:114862608-114862609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114857751..114862120-chr5:114862571..114865082,5	K562	blood:
2	chr5:114862091..114864890-chr5:114879646..114881556,3	MCF-7	breast:
3	chr5:114862454..114862956-chr5:140419439..140420213,2	MCF-7	breast:
4	chr5:114860835..114862684-chr5:114863168..114864729,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10038493	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10041776	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043094	0.88[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10053572	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10073505	0.81[ASN][1000 genomes]
rs10079000	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs1015812	0.88[ASN][1000 genomes]
rs12187973	0.85[CEU][hapmap]
rs13184723	0.87[ASN][1000 genomes]
rs13356084	0.94[ASN][1000 genomes]
rs13357862	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2032842	0.83[CHB][hapmap]
rs2546484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2546487	0.89[CEU][hapmap]
rs256938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256956	0.83[CEU][hapmap]
rs256959	0.82[CEU][hapmap]
rs256976	0.82[CEU][hapmap]
rs256977	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256989	0.86[ASN][1000 genomes]
rs256995	0.84[ASN][1000 genomes]
rs6860557	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878790	0.80[ASN][1000 genomes]
rs6892071	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6893854	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894123	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746566	0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs766454	0.87[ASN][1000 genomes]
rs813761	0.83[CEU][hapmap]
rs9326964	0.89[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114853800-114863000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:114855400-114863600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:114856800-114864200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:114857000-114863000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:114857200-114863000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:114857600-114866400	Strong transcription	Dnd41	blood
9	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:114858000-114863000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:114858200-114863000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:114858200-114863200	Genic enhancers	NHDF-Ad	bronchial
13	chr5:114858200-114863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:114858400-114862800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:114858400-114863000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:114858600-114863000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:114858600-114863200	Strong transcription	Primary B cells from cord blood	blood
18	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:114858800-114862800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
21	chr5:114859000-114863000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:114859000-114863000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:114859000-114863400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:114859000-114863800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:114859200-114862800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:114859200-114863000	Strong transcription	Fetal Thymus	thymus
27	chr5:114859200-114866200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:114859200-114867200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:114859400-114864400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:114859600-114863000	Strong transcription	GM12878-XiMat	blood
31	chr5:114859600-114863400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:114859800-114863200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:114860000-114862800	Strong transcription	Fetal Muscle Leg	muscle
34	chr5:114860000-114864800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:114860200-114863000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:114860600-114863000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:114860600-114863400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr5:114860800-114862800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:114860800-114864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
42	chr5:114861000-114863000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
44	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
46	chr5:114861200-114862800	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:114861200-114863200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:114861200-114863400	Weak transcription	Right Ventricle	heart
49	chr5:114861200-114864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:114861200-114864600	Weak transcription	Brain Germinal Matrix	brain

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