Variant report

Variant	rs6885028
Chromosome Location	chr5:80612085-80612086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80603897..80608830-chr5:80609104..80612341,4	K562	blood:
2	chr5:80607330..80608887-chr5:80610841..80612586,2	K562	blood:

Variant related genes	Relation type
ENSG00000131732	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10038684	0.83[ASN][1000 genomes]
rs10041063	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10052929	0.82[CEU][hapmap]
rs10053706	0.83[ASN][1000 genomes]
rs10056565	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063615	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066296	0.83[ASN][1000 genomes]
rs10078279	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10474656	0.83[ASN][1000 genomes]
rs10514213	1.00[CHB][hapmap]
rs1055383	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10942945	1.00[CHB][hapmap]
rs11950033	1.00[CHB][hapmap]
rs13362314	0.83[ASN][1000 genomes]
rs1566432	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17294418	1.00[CHB][hapmap]
rs2173697	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2270823	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2406556	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464111	0.83[ASN][1000 genomes]
rs28650401	0.83[ASN][1000 genomes]
rs2897389	1.00[CHB][hapmap]
rs2897390	1.00[CHB][hapmap]
rs3756636	0.88[CEU][hapmap]
rs4703827	1.00[CHB][hapmap]
rs4704707	1.00[CHB][hapmap]
rs4704710	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4704711	0.81[CEU][hapmap]
rs4704712	0.83[ASN][1000 genomes]
rs4704715	0.83[ASN][1000 genomes]
rs4704720	0.92[ASN][1000 genomes]
rs59132806	0.83[ASN][1000 genomes]
rs60488995	0.83[ASN][1000 genomes]
rs60904680	0.83[ASN][1000 genomes]
rs61244991	0.83[ASN][1000 genomes]
rs62365865	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68077638	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866499	1.00[CHB][hapmap]
rs6867884	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893467	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7709071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720009	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7734902	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921928	1.00[CHB][hapmap]
rs9293841	1.00[CHB][hapmap];0.83[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80598200-80612400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:80599200-80612200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:80601400-80612400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:80601400-80612400	Weak transcription	Thymus	Thymus
5	chr5:80607000-80612400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:80607000-80612800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:80607200-80612800	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:80608400-80612400	Weak transcription	GM12878-XiMat	blood
9	chr5:80608600-80612600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:80608600-80615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80608600-80623000	Weak transcription	Psoas Muscle	Psoas
12	chr5:80609800-80612800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:80609800-80613000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:80609800-80613400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:80609800-80613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:80610000-80612200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:80610000-80612400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:80610000-80614600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:80610000-80618000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:80610400-80612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:80610400-80612400	Enhancers	NHDF-Ad	bronchial
22	chr5:80610400-80613000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:80610600-80612200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:80610600-80612200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:80610600-80612200	Weak transcription	Placenta	Placenta
26	chr5:80610600-80612200	Weak transcription	Dnd41	blood
27	chr5:80610600-80613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:80610600-80621800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:80610800-80612400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:80610800-80612400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:80610800-80612800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:80610800-80613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:80610800-80613000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:80610800-80613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:80611000-80612400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:80611000-80612400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:80611000-80612600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:80611000-80612800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:80611200-80612200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:80611200-80612800	Weak transcription	Fetal Stomach	stomach
41	chr5:80611200-80612800	Weak transcription	Fetal Thymus	thymus
42	chr5:80611200-80612800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:80611200-80613000	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:80611200-80616000	Weak transcription	Liver	Liver
45	chr5:80611400-80612200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:80611400-80612400	Enhancers	Osteobl	bone
47	chr5:80611400-80613000	Weak transcription	Primary B cells from cord blood	blood
48	chr5:80611400-80613200	Weak transcription	Left Ventricle	heart
49	chr5:80611400-80614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:80611600-80613200	Weak transcription	Primary T cells from cord blood	blood

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