Variant report

Variant	rs7828748
Chromosome Location	chr8:67964581-67964582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67957804..67959603-chr8:67964116..67966913,4	K562	blood:
2	chr8:67835869..67838057-chr8:67964352..67966044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11986053	1.00[JPT][hapmap]
rs11986982	1.00[JPT][hapmap]
rs11992605	1.00[JPT][hapmap]
rs11997404	1.00[JPT][hapmap]
rs1378999	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919053	1.00[JPT][hapmap]
rs16933106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs16933132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16933138	1.00[JPT][hapmap]
rs16933139	1.00[JPT][hapmap]
rs16933160	1.00[JPT][hapmap]
rs16933162	1.00[JPT][hapmap]
rs16933170	1.00[JPT][hapmap]
rs16933173	1.00[JPT][hapmap]
rs16933182	1.00[JPT][hapmap]
rs16933190	1.00[JPT][hapmap]
rs1808140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2290585	1.00[JPT][hapmap]
rs2290586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2290587	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2305672	1.00[JPT][hapmap]
rs2305673	1.00[JPT][hapmap]
rs28417755	0.80[EUR][1000 genomes]
rs4072321	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364616	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4592015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6984568	1.00[JPT][hapmap]
rs6984597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986871	0.87[EUR][1000 genomes]
rs6988547	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	1.00[JPT][hapmap]
rs6990696	0.87[EUR][1000 genomes]
rs6991974	1.00[JPT][hapmap]
rs6998170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7000650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7004391	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7008877	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7461383	1.00[JPT][hapmap]
rs7812859	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819894	1.00[JPT][hapmap]
rs7819895	1.00[JPT][hapmap]
rs7820420	1.00[CHB][hapmap]
rs7824775	1.00[JPT][hapmap]
rs7833956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7834516	1.00[JPT][hapmap]
rs7841884	1.00[JPT][hapmap]
rs9693185	1.00[EUR][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	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
3	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
8	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:67953600-67971600	Strong transcription	Liver	Liver
11	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:67953800-67966000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
22	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
23	chr8:67954000-67965400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:67954200-67971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:67954200-67972400	Strong transcription	Fetal Lung	lung
29	chr8:67954400-67970600	Strong transcription	Brain Anterior Caudate	brain
30	chr8:67954400-67971400	Strong transcription	Dnd41	blood
31	chr8:67954400-67971600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:67954400-67971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:67954400-67972200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:67954400-67972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:67954600-67966000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr8:67954600-67971200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:67954600-67971400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:67954600-67971400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr8:67954600-67972000	Strong transcription	Adipose Nuclei	Adipose
40	chr8:67954600-67972400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:67954600-67972600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:67954800-67971600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:67954800-67971600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:67954800-67971800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:67954800-67972000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:67954800-67972600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:67954800-67972600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:67955400-67965400	Strong transcription	Fetal Kidney	kidney
49	chr8:67955400-67971600	Strong transcription	HMEC	breast
50	chr8:67955600-67967200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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