Variant report

Variant	rs1679723
Chromosome Location	chr6:28199600-28199601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28197985..28199991-chr6:28239613..28241567,2	K562	blood:
2	chr6:28199310..28201659-chr6:28248722..28250391,2	K562	blood:
3	chr6:28198039..28200844-chr6:28211243..28213952,3	MCF-7	breast:
4	chr6:28195857..28199662-chr6:28302729..28304554,3	K562	blood:
5	chr6:28198177..28200363-chr6:28214686..28217029,3	MCF-7	breast:
6	chr6:28198920..28201327-chr6:28323258..28325421,2	K562	blood:

Variant related genes	Relation type
ENSG00000197062	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000137338	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10080420	0.80[ASN][1000 genomes]
rs10484404	1.00[JPT][hapmap]
rs1150700	1.00[MEX][hapmap];0.92[YRI][hapmap]
rs1150708	1.00[EUR][1000 genomes]
rs1150715	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1150722	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs1150723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs1150725	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12332986	0.80[ASN][1000 genomes]
rs1233706	1.00[EUR][1000 genomes]
rs1600621	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736892	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2799076	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[ASN][1000 genomes]
rs28475822	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3757183	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6456812	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6456813	0.86[YRI][hapmap]
rs6456817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6456820	0.80[ASN][1000 genomes]
rs6899512	0.80[ASN][1000 genomes]
rs6901001	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6902583	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6908459	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6910120	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6912921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6918043	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918631	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6922161	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6922302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6929449	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6929559	1.00[JPT][hapmap]
rs6938371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7747772	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752448	1.00[JPT][hapmap]
rs7752721	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[ASN][1000 genomes]
rs7759855	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7767897	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9295769	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs9295770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9461450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9461452	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9461453	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9461457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9468328	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9468335	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9468337	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9468341	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9468375	0.86[ASN][1000 genomes]
rs9654587	0.93[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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1679723	ZNF311	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28193600-28213400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:28193800-28204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:28193800-28211800	Weak transcription	Fetal Thymus	thymus
4	chr6:28193800-28218400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:28193800-28218400	Weak transcription	Stomach Mucosa	stomach
6	chr6:28194000-28211000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:28194000-28211800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:28194000-28212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:28194000-28213000	Weak transcription	Thymus	Thymus
10	chr6:28194000-28213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:28194600-28199800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:28194600-28207000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:28194800-28202800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:28194800-28202800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:28194800-28202800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:28194800-28204200	Strong transcription	Left Ventricle	heart
17	chr6:28194800-28205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:28195000-28199600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:28195000-28200000	Strong transcription	NH-A	brain
20	chr6:28195000-28200200	Strong transcription	HUVEC	blood vessel
21	chr6:28195000-28201200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:28195000-28201200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:28195000-28201200	Strong transcription	Ovary	ovary
24	chr6:28195000-28201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:28195000-28201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:28195000-28201600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr6:28195000-28201600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:28195000-28201600	Strong transcription	HepG2	liver
29	chr6:28195000-28202000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:28195000-28202000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:28195000-28202000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:28195000-28202000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:28195000-28202000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:28195000-28202200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:28195000-28202200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr6:28195000-28202200	Strong transcription	Fetal Lung	lung
37	chr6:28195000-28202400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:28195000-28202600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr6:28195000-28202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:28195000-28202600	Strong transcription	Fetal Stomach	stomach
41	chr6:28195000-28202600	Strong transcription	NHLF	lung
42	chr6:28195000-28202800	Strong transcription	Liver	Liver
43	chr6:28195000-28203000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:28195000-28203000	Strong transcription	Fetal Intestine Large	intestine
45	chr6:28195000-28203200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:28195000-28203800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:28195200-28200400	Strong transcription	HMEC	breast
48	chr6:28195200-28201000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:28195200-28201600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:28195200-28202000	Strong transcription	Colon Smooth Muscle	Colon

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