Variant report

Variant	rs1247553
Chromosome Location	chr6:161188103-161188104
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	chr6:161185948..161188243-chr6:161411812..161413951,2	K562	blood:
2	chr6:161183337..161185501-chr6:161187046..161189123,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1084654	0.83[EUR][1000 genomes]
rs1084656	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1084658	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11060	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11902	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247541	0.81[ASN][1000 genomes]
rs1247551	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247552	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247554	1.00[ASN][1000 genomes]
rs1247555	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247556	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247557	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247558	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247561	0.90[ASN][1000 genomes]
rs1247562	0.90[ASN][1000 genomes]
rs1247563	0.90[ASN][1000 genomes]
rs1247568	0.90[ASN][1000 genomes]
rs1247570	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1406890	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406891	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614840	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1615527	0.88[EUR][1000 genomes]
rs1620921	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1621801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1652455	0.88[EUR][1000 genomes]
rs1652463	0.81[ASN][1000 genomes]
rs1652471	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1652482	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1652499	1.00[ASN][1000 genomes]
rs1652500	1.00[ASN][1000 genomes]
rs1652502	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1740432	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1740442	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1740443	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1740444	0.90[ASN][1000 genomes]
rs1740446	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1830524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2565724	1.00[CHB][hapmap]
rs28711930	0.81[ASN][1000 genomes]
rs6690	0.89[EUR][1000 genomes]
rs783145	0.83[ASN][1000 genomes]
rs783156	0.81[EUR][1000 genomes]
rs783159	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783160	1.00[ASN][1000 genomes]
rs783161	1.00[ASN][1000 genomes]
rs783162	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783163	0.82[EUR][1000 genomes]
rs783164	1.00[ASN][1000 genomes]
rs783168	0.95[EUR][1000 genomes]
rs783169	0.95[EUR][1000 genomes]
rs783171	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783173	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783174	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783175	0.91[ASN][1000 genomes]
rs783177	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783178	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783180	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783181	0.83[ASN][1000 genomes]
rs783182	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9355844	0.81[ASN][1000 genomes]
rs9456598	0.81[ASN][1000 genomes]
rs9458048	0.81[ASN][1000 genomes]

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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3421398	chr6:161183862-161188260	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161187000-161188800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161187400-161188800	Active TSS	Fetal Brain Female	brain
3	chr6:161187600-161188400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:161187600-161188400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:161187600-161188600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr6:161187600-161188600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:161187600-161188600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:161187600-161188600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:161187600-161188600	Active TSS	Brain Cingulate Gyrus	brain
10	chr6:161187600-161188600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:161187600-161188800	Active TSS	Brain Anterior Caudate	brain
12	chr6:161187600-161188800	Enhancers	Fetal Lung	lung
13	chr6:161187600-161188800	Active TSS	NHEK	skin
14	chr6:161187800-161188200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:161187800-161188200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:161187800-161188200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr6:161187800-161188200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:161187800-161188200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:161187800-161188200	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr6:161187800-161188200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:161187800-161188200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr6:161187800-161188200	Flanking Active TSS	HMEC	breast
23	chr6:161187800-161188400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:161187800-161188400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:161187800-161188400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:161187800-161188600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:161187800-161188600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:161187800-161188600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:161187800-161188600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:161187800-161188600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:161187800-161188600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:161187800-161188600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:161187800-161188600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:161187800-161188600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr6:161187800-161188600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:161187800-161188600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr6:161187800-161188600	Active TSS	Brain Hippocampus Middle	brain
38	chr6:161187800-161188600	Active TSS	Colon Smooth Muscle	Colon
39	chr6:161187800-161188600	Active TSS	Fetal Kidney	kidney
40	chr6:161187800-161188600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:161187800-161188600	Enhancers	Lung	lung
42	chr6:161187800-161188600	Flanking Active TSS	Pancreas	Pancrea
43	chr6:161187800-161188600	Bivalent Enhancer	Spleen	Spleen
44	chr6:161187800-161188600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr6:161187800-161188800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:161187800-161188800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr6:161187800-161188800	Active TSS	Brain Substantia Nigra	brain
48	chr6:161187800-161188800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:161187800-161188800	Active TSS	Ovary	ovary
50	chr6:161187800-161189000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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