Variant report

Variant	rs6871668
Chromosome Location	chr5:112583527-112583528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10053052	0.86[CHB][hapmap]
rs10067046	1.00[YRI][hapmap]
rs10519341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135465	0.82[JPT][hapmap]
rs17135473	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135525	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135541	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135586	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[MKK][hapmap];0.95[EUR][1000 genomes]
rs17135601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];0.95[EUR][1000 genomes]
rs17135607	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];0.95[EUR][1000 genomes]
rs17135615	0.95[EUR][1000 genomes]
rs17376277	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1822487	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1822494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2222145	0.95[EUR][1000 genomes]
rs2900070	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs41420244	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs41459745	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs589147	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59073951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6876870	0.82[EUR][1000 genomes]
rs882755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112572400-112590400	Weak transcription	Liver	Liver
3	chr5:112572600-112585800	Weak transcription	Pancreas	Pancrea
4	chr5:112575400-112585400	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:112578600-112584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:112578800-112584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112579600-112585400	Weak transcription	Esophagus	oesophagus
8	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
9	chr5:112580400-112583800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:112580800-112583600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:112580800-112583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112580800-112583800	Enhancers	Psoas Muscle	Psoas
14	chr5:112581200-112583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112581400-112584400	Enhancers	Left Ventricle	heart
16	chr5:112581400-112590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112581600-112585000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:112582200-112583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:112582200-112585200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:112582200-112585400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:112582200-112586400	Weak transcription	HMEC	breast
22	chr5:112582400-112583800	Enhancers	Fetal Muscle Leg	muscle
23	chr5:112582400-112585000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:112582400-112585400	Weak transcription	Fetal Kidney	kidney
25	chr5:112582600-112583600	Enhancers	Right Atrium	heart
26	chr5:112582600-112583800	Enhancers	Ovary	ovary
27	chr5:112582600-112583800	Enhancers	Right Ventricle	heart
28	chr5:112582600-112585200	Weak transcription	HUVEC	blood vessel
29	chr5:112582600-112585600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:112582600-112585800	Weak transcription	Fetal Lung	lung
31	chr5:112582800-112583800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:112582800-112584400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:112582800-112585200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:112582800-112585400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:112582800-112585400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:112582800-112585400	Weak transcription	Stomach Mucosa	stomach
37	chr5:112582800-112585600	Weak transcription	HSMM	muscle
38	chr5:112582800-112585800	Weak transcription	HSMMtube	muscle
39	chr5:112582800-112586000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:112582800-112586000	Weak transcription	Placenta	Placenta
41	chr5:112582800-112586400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:112582800-112586400	Weak transcription	NHEK	skin
43	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:112583000-112584400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:112583000-112584400	Weak transcription	Osteobl	bone
46	chr5:112583000-112584800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:112583000-112585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112583000-112585200	Weak transcription	Fetal Stomach	stomach
49	chr5:112583000-112585400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112583000-112585400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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