Variant report

Variant	rs7703101
Chromosome Location	chr5:114597146-114597147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114596880..114599090-chr5:114631128..114633570,2	MCF-7	breast:
2	chr5:114596551..114598881-chr5:114630526..114633575,4	MCF-7	breast:
3	chr5:114585052..114588251-chr5:114594409..114598098,3	MCF-7	breast:
4	chr5:114588379..114591127-chr5:114596921..114598565,2	MCF-7	breast:
5	chr5:114593990..114598856-chr5:114605325..114609897,4	K562	blood:

Variant related genes	Relation type
ENSG00000164219	Chromatin interaction
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1363236	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs17137577	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17137584	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17459137	0.87[GIH][hapmap]
rs187852	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265422	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs265423	0.98[EUR][1000 genomes]
rs265427	1.00[CEU][hapmap];0.81[YRI][hapmap];0.98[EUR][1000 genomes]
rs265428	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265431	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs265432	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265433	0.90[CEU][hapmap];0.98[EUR][1000 genomes]
rs265434	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs265440	0.91[CEU][hapmap];1.00[GIH][hapmap];0.80[EUR][1000 genomes]
rs265441	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs265443	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs265444	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs62383167	1.00[EUR][1000 genomes]
rs7700478	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
2	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
4	chr5:114576800-114597400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:114577000-114597200	Weak transcription	Placenta	Placenta
6	chr5:114579800-114597400	Weak transcription	Left Ventricle	heart
7	chr5:114584600-114597200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:114585400-114597200	Weak transcription	Fetal Thymus	thymus
9	chr5:114592600-114597400	Weak transcription	Esophagus	oesophagus
10	chr5:114594400-114597400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:114594600-114597400	Weak transcription	Right Atrium	heart
12	chr5:114594600-114597600	Weak transcription	Pancreas	Pancrea
13	chr5:114594800-114597200	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:114594800-114597400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:114595000-114597200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:114595000-114597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:114595200-114597600	Weak transcription	Lung	lung
18	chr5:114595600-114597400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:114595800-114597200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:114595800-114597200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:114595800-114597600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:114596000-114597200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:114596000-114597200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:114596000-114597200	Enhancers	Osteobl	bone
25	chr5:114596000-114597400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:114596000-114597400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr5:114596000-114597400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:114596000-114597400	Enhancers	Colon Smooth Muscle	Colon
29	chr5:114596400-114597200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:114596400-114597200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:114596400-114597400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:114596400-114597400	Enhancers	Primary B cells from cord blood	blood
33	chr5:114596400-114597400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:114596400-114597400	Enhancers	Fetal Lung	lung
35	chr5:114596400-114597400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:114596400-114597400	Enhancers	Stomach Mucosa	stomach
37	chr5:114596400-114597600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:114596400-114597800	Flanking Active TSS	NHEK	skin
39	chr5:114596600-114597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:114596600-114597400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:114596600-114597400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:114596600-114597800	Flanking Active TSS	NH-A	brain
43	chr5:114596600-114598000	Flanking Active TSS	Dnd41	blood
44	chr5:114596800-114597200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:114596800-114597200	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:114596800-114597200	Enhancers	HUVEC	blood vessel
47	chr5:114596800-114597400	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:114596800-114597400	Enhancers	Fetal Kidney	kidney
49	chr5:114596800-114597600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:114596800-114597600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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