Variant report

Variant	rs2271354
Chromosome Location	chr5:126145771-126145772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126145092-126148371	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126144524..126147044-chr5:126151207..126155375,3	MCF-7	breast:
2	chr5:126145493..126147146-chr5:126147847..126149410,2	MCF-7	breast:
3	chr5:126135601..126137322-chr5:126144015..126147273,3	K562	blood:
4	chr5:126112758..126116358-chr5:126145679..126148817,3	K562	blood:
5	chr5:126139495..126141394-chr5:126144830..126147381,2	K562	blood:

No data

Variant related genes	Relation type
LMNB1	TF binding region
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1510955	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036844	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2941662	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2941665	0.81[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941667	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973584	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973585	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973586	0.95[CHD][hapmap]
rs2973593	0.81[MEX][hapmap]
rs2973599	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973602	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973603	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973888	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2973891	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973892	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895856	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126161600	Weak transcription	Ovary	ovary
2	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:126132200-126161200	Weak transcription	Gastric	stomach
8	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
9	chr5:126136000-126175200	Strong transcription	Dnd41	blood
10	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:126137600-126146800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:126137600-126154600	Weak transcription	Fetal Kidney	kidney
13	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:126137800-126146400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:126137800-126147400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:126138400-126146000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:126139800-126148200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:126139800-126160600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126140000-126146600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:126140000-126150600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126140000-126162000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:126140000-126162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
26	chr5:126140200-126150600	Strong transcription	Thymus	Thymus
27	chr5:126140200-126161400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:126140200-126161800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:126140200-126162600	Weak transcription	Colonic Mucosa	Colon
30	chr5:126140200-126163400	Weak transcription	Pancreas	Pancrea
31	chr5:126140400-126147200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:126140400-126150000	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:126140400-126150600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:126140400-126161200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:126140400-126161800	Weak transcription	Placenta	Placenta
36	chr5:126140400-126162200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:126140600-126161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:126140800-126161400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:126141000-126145800	Weak transcription	HMEC	breast
40	chr5:126141000-126146400	Weak transcription	NH-A	brain
41	chr5:126141000-126146800	Weak transcription	NHEK	skin
42	chr5:126141000-126147600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:126141000-126159200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
45	chr5:126141200-126146600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:126141200-126147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:126141200-126161400	Weak transcription	Lung	lung
48	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:126141400-126146600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:126141400-126147600	Weak transcription	Brain Angular Gyrus	brain

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