Variant report

Variant	rs9469852
Chromosome Location	chr6:34677776-34677777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34664626..34667053-chr6:34675137..34677958,3	K562	blood:
2	chr6:34664965..34667279-chr6:34675934..34678672,3	K562	blood:

Variant related genes	Relation type
ENSG00000196821	Chromatin interaction
ENSG00000272288	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1018622	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1051115	0.83[EUR][1000 genomes]
rs11961041	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11963234	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11966100	0.84[EUR][1000 genomes]
rs11967912	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11968954	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11968972	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12111129	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13195361	0.84[EUR][1000 genomes]
rs13195490	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13196785	0.84[EUR][1000 genomes]
rs13196983	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205210	0.84[EUR][1000 genomes]
rs13206245	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13208149	0.84[EUR][1000 genomes]
rs13210470	0.84[EUR][1000 genomes]
rs13212699	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13213239	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13213288	0.84[EUR][1000 genomes]
rs13213604	0.84[EUR][1000 genomes]
rs13214596	0.86[EUR][1000 genomes]
rs16892384	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16892386	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16895659	0.81[EUR][1000 genomes]
rs2296361	0.84[EUR][1000 genomes]
rs2296362	0.84[EUR][1000 genomes]
rs2395603	0.81[EUR][1000 genomes]
rs2395605	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28360525	0.81[EUR][1000 genomes]
rs34261333	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34355573	0.84[EUR][1000 genomes]
rs34377413	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34463942	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34480956	0.84[EUR][1000 genomes]
rs34681295	0.86[EUR][1000 genomes]
rs34840245	0.84[EUR][1000 genomes]
rs35081279	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35103554	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35143960	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35186650	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35195182	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35203657	0.84[EUR][1000 genomes]
rs35286877	0.85[ASN][1000 genomes]
rs35369977	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35444671	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35684630	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35744142	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35940001	0.84[EUR][1000 genomes]
rs35987776	0.85[ASN][1000 genomes]
rs36026951	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4438945	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646933	0.83[EUR][1000 genomes]
rs6457792	0.90[ASN][1000 genomes]
rs66672772	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66926909	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67622212	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67895864	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6900426	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6904996	0.83[EUR][1000 genomes]
rs6908462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909393	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909637	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6910824	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6914351	0.80[EUR][1000 genomes]
rs6925175	0.84[EUR][1000 genomes]
rs6926373	0.84[EUR][1000 genomes]
rs6934741	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937428	0.85[ASN][1000 genomes]
rs6941453	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71567467	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72892238	0.88[ASN][1000 genomes]
rs72892286	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72910111	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72910167	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7739385	0.83[EUR][1000 genomes]
rs7743724	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7743949	0.82[EUR][1000 genomes]
rs7749750	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755354	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7758743	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7759412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761391	0.82[EUR][1000 genomes]
rs7763989	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764126	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7764921	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7765969	0.84[ASN][1000 genomes]
rs7775947	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7776439	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs912717	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9461993	0.83[ASN][1000 genomes]
rs9461994	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9461997	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9462001	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462002	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462003	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469832	0.80[AMR][1000 genomes]
rs9469836	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9469837	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9469838	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9469840	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9469842	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9469843	0.80[ASN][1000 genomes]
rs9469847	0.92[ASN][1000 genomes]
rs9968782	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9469852	SNRPC	cis	lung	GTEx
rs9469852	UHRF1BP1	cis	Artery Tibial	GTEx
rs9469852	UHRF1BP1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34676200-34678000	Enhancers	Brain Cingulate Gyrus	brain
2	chr6:34676400-34677800	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr6:34676400-34677800	Enhancers	Fetal Muscle Trunk	muscle
4	chr6:34676400-34677800	Enhancers	Pancreas	Pancrea
5	chr6:34676400-34678000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:34676400-34678200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:34676400-34678200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:34676400-34678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:34676400-34678400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:34676400-34678400	Enhancers	Fetal Muscle Leg	muscle
11	chr6:34676800-34677800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:34676800-34677800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:34676800-34677800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:34676800-34677800	Enhancers	Adipose Nuclei	Adipose
15	chr6:34676800-34677800	Enhancers	Liver	Liver
16	chr6:34676800-34677800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:34676800-34677800	Enhancers	Stomach Smooth Muscle	stomach
18	chr6:34676800-34678200	Enhancers	Ovary	ovary
19	chr6:34676800-34678200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:34677200-34677800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:34677200-34677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:34677200-34677800	Enhancers	Brain Anterior Caudate	brain
23	chr6:34677200-34677800	Enhancers	Brain Hippocampus Middle	brain
24	chr6:34677200-34677800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:34677200-34677800	Enhancers	Brain Substantia Nigra	brain
26	chr6:34677200-34677800	Enhancers	Colon Smooth Muscle	Colon
27	chr6:34677200-34677800	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:34677200-34677800	Enhancers	NHLF	lung
29	chr6:34677200-34677800	Enhancers	Osteobl	bone
30	chr6:34677200-34678000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:34677200-34678000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:34677200-34678000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:34677200-34678000	Enhancers	Aorta	Aorta
34	chr6:34677200-34678000	Enhancers	Brain Germinal Matrix	brain
35	chr6:34677200-34678000	Enhancers	Stomach Mucosa	stomach
36	chr6:34677200-34678000	Flanking Active TSS	HepG2	liver
37	chr6:34677200-34678000	Enhancers	K562	blood
38	chr6:34677200-34678000	Enhancers	NHEK	skin
39	chr6:34677200-34678200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:34677200-34678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:34677200-34678200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:34677200-34678200	Enhancers	Brain Angular Gyrus	brain
43	chr6:34677200-34678200	Enhancers	Fetal Stomach	stomach
44	chr6:34677200-34678200	Enhancers	HMEC	breast
45	chr6:34677400-34677800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:34677400-34677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:34677400-34677800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:34677400-34677800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:34677400-34678000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:34677400-34678200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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