Variant report

Variant	rs205264
Chromosome Location	chr6:34562196-34562197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34557484..34560082-chr6:34560932..34564487,4	K562	blood:
2	chr6:34535096..34537769-chr6:34560989..34563955,2	K562	blood:
3	chr6:34553065..34556672-chr6:34559907..34563488,3	K562	blood:
4	chr6:34557282..34558912-chr6:34561109..34562866,2	K562	blood:
5	chr6:34559418..34564619-chr6:34574111..34579705,5	K562	blood:
6	chr6:34559251..34563150-chr6:34565223..34569696,5	K562	blood:
7	chr6:34522846..34524505-chr6:34560698..34562475,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124664	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1201872	0.97[ASN][1000 genomes]
rs13209544	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16892384	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16892386	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205262	0.93[ASN][1000 genomes]
rs205263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205266	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205267	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205284	0.97[ASN][1000 genomes]
rs34374374	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286877	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35987776	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36032186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451263	0.97[ASN][1000 genomes]
rs451603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457784	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6900426	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6909637	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6937428	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72900436	0.85[ASN][1000 genomes]
rs7738377	0.95[ASN][1000 genomes]
rs7748836	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7764921	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765969	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9461992	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9461993	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9461994	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9461997	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9462001	0.82[ASN][1000 genomes]
rs9462002	0.82[ASN][1000 genomes]
rs9462003	0.82[ASN][1000 genomes]
rs9469812	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469813	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469820	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469822	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9469827	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469832	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469836	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469837	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469838	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469840	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469842	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469843	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9469847	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	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
9	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	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
12	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs205264	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs205264	UHRF1BP1	cis	Artery Tibial	GTEx
rs205264	SNRPC	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34535600-34563200	Weak transcription	A549	lung
2	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
3	chr6:34549000-34564200	Strong transcription	Fetal Intestine Small	intestine
4	chr6:34549400-34564400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:34549800-34564200	Strong transcription	Fetal Stomach	stomach
6	chr6:34553400-34562200	Weak transcription	Small Intestine	intestine
7	chr6:34553400-34570000	Weak transcription	NH-A	brain
8	chr6:34553600-34566400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:34553800-34562800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:34554000-34573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:34554200-34563000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:34554600-34577200	Weak transcription	HUVEC	blood vessel
13	chr6:34555400-34574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:34555600-34569200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:34555800-34565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:34556000-34562200	Weak transcription	Pancreas	Pancrea
17	chr6:34556000-34563800	Weak transcription	Stomach Mucosa	stomach
18	chr6:34556200-34563000	Weak transcription	HMEC	breast
19	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:34556400-34563600	Weak transcription	Gastric	stomach
21	chr6:34557200-34573600	Weak transcription	Colonic Mucosa	Colon
22	chr6:34557400-34565000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
24	chr6:34557600-34562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:34557600-34562800	Weak transcription	NHLF	lung
26	chr6:34557600-34563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:34557600-34563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:34557600-34565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:34557600-34565600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:34557600-34566600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:34557600-34567200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:34557600-34569000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:34557600-34569200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:34557600-34569600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:34557600-34569600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:34557600-34573200	Weak transcription	Spleen	Spleen
37	chr6:34557600-34573400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:34557800-34562400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:34557800-34562800	Weak transcription	Osteobl	bone
40	chr6:34557800-34563000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:34557800-34564400	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:34557800-34565200	Weak transcription	Esophagus	oesophagus
43	chr6:34557800-34565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:34557800-34566000	Weak transcription	Fetal Lung	lung
45	chr6:34557800-34566400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:34558000-34563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:34558000-34568600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:34558000-34570000	Weak transcription	Fetal Intestine Large	intestine
49	chr6:34558000-34573400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:34558000-34573400	Weak transcription	Placenta	Placenta

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