Variant report

Variant	rs454182
Chromosome Location	chr6:28511164-28511165
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28439477..28442256-chr6:28509445..28511862,2	K562	blood:
2	chr6:28508365..28512579-chr6:28582414..28584502,4	K562	blood:
3	chr6:28475480..28477562-chr6:28509551..28511332,2	K562	blood:
4	chr6:28510237..28512040-chr6:28576892..28578404,2	K562	blood:
5	chr6:28364273..28366438-chr6:28510597..28512229,2	K562	blood:
6	chr6:28508469..28511332-chr6:28520528..28524271,3	K562	blood:
7	chr6:28510221..28512274-chr6:28527181..28528821,2	K562	blood:
8	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
9	chr6:28317772..28319708-chr6:28509467..28511768,2	K562	blood:
10	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
11	chr6:28367674..28369905-chr6:28510832..28512890,2	K562	blood:
12	chr6:28508618..28512579-chr6:28580487..28584134,6	K562	blood:
13	chr6:28510133..28512590-chr6:28554507..28556682,2	MCF-7	breast:
14	chr6:28470071..28472229-chr6:28510465..28513041,2	K562	blood:
15	chr6:28510407..28512273-chr6:28513492..28515889,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232040	Chromatin interaction
ENSG00000246350	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1003359	0.84[AMR][1000 genomes]
rs2143766	0.87[ASN][1000 genomes]
rs2227228	0.94[ASW][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs2859355	0.94[ASW][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2859356	0.84[CHD][hapmap];0.89[GIH][hapmap]
rs389118	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs392230	0.87[ASN][1000 genomes]
rs393414	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs406113	0.90[AMR][1000 genomes]
rs434112	0.90[AMR][1000 genomes]
rs437691	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451774	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4713167	0.82[AMR][1000 genomes]
rs6456822	0.84[AMR][1000 genomes]
rs6456823	0.84[AMR][1000 genomes]
rs7743046	0.82[AMR][1000 genomes]
rs974334	0.84[CHD][hapmap];0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv435838	chr6:28507880-28514263	Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs454182	ZNF323	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28509600-28512800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:28509800-28511800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:28509800-28512200	Active TSS	A549	lung
4	chr6:28509800-28512600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:28509800-28512600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:28509800-28512600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:28509800-28512600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:28509800-28512800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:28509800-28512800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:28509800-28512800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:28510000-28511200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:28510000-28512000	Active TSS	Fetal Intestine Small	intestine
13	chr6:28510000-28512200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:28510000-28512200	Active TSS	Fetal Intestine Large	intestine
15	chr6:28510000-28512400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:28510000-28512400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:28510000-28512400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:28510000-28512400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:28510000-28512600	Active TSS	Fetal Kidney	kidney
20	chr6:28510000-28512800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:28510200-28511200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:28510200-28511200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:28510200-28511200	Active TSS	Placenta Amnion	Placenta Amnion
24	chr6:28510200-28511200	Active TSS	GM12878-XiMat	blood
25	chr6:28510200-28511400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:28510200-28511600	Active TSS	Colonic Mucosa	Colon
27	chr6:28510200-28512000	Active TSS	Brain Anterior Caudate	brain
28	chr6:28510200-28512000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:28510200-28512200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:28510200-28512200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:28510200-28512200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:28510200-28512200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:28510200-28512400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:28510200-28512400	Active TSS	Fetal Lung	lung
35	chr6:28510200-28512800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:28510400-28511200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:28510400-28511200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr6:28510400-28511200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
39	chr6:28510400-28511200	Active TSS	NH-A	brain
40	chr6:28510400-28511400	Bivalent/Poised TSS	Fetal Brain Male	brain
41	chr6:28510400-28512000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr6:28510400-28512000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:28510400-28512200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:28510400-28512200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:28510400-28512400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:28510600-28511200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:28510600-28511400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:28510600-28511400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:28510600-28511400	Weak transcription	Right Atrium	heart
50	chr6:28510600-28511600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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