Variant report

Variant	rs205286
Chromosome Location	chr6:34551334-34551335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34551284..34553223-chr6:34555958..34557670,2	MCF-7	breast:
2	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
3	chr6:34522438..34524089-chr6:34549801..34552822,3	MCF-7	breast:
4	chr6:34535538..34537048-chr6:34550660..34552218,2	K562	blood:
5	chr6:34543493..34547191-chr6:34549783..34553774,3	MCF-7	breast:
6	chr6:34544544..34547164-chr6:34547916..34551672,4	K562	blood:

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1201873	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1201874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12201281	0.83[ASN][1000 genomes]
rs188190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205258	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs205259	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205260	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs205262	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs205283	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2235568	0.96[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235569	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2262245	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263329	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2395598	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395599	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2744941	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2744944	0.83[ASN][1000 genomes]
rs2744949	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2744957	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744959	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2744961	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap]
rs2744973	0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744974	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2764201	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap]
rs2764206	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[YRI][hapmap]
rs2764207	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs2764208	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs2814942	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2814945	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814947	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2814949	0.83[ASN][1000 genomes]
rs2814963	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2814966	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs2814968	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs2814970	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2814971	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs2814972	0.92[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814974	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814975	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814976	0.96[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814978	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2814979	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814981	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814987	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814988	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814991	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814992	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814995	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815001	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2815004	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3734268	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs3798352	0.84[CEU][hapmap]
rs3800458	0.88[CEU][hapmap]
rs412392	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937784	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7341253	0.95[CEU][hapmap]
rs7341267	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[YRI][hapmap]
rs7741437	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[YRI][hapmap]
rs7742652	0.86[ASN][1000 genomes]
rs7755926	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[YRI][hapmap]
rs7755982	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs7756405	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs7759128	0.85[ASN][1000 genomes]
rs7759227	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs7771778	0.83[ASN][1000 genomes]
rs9357181	0.84[ASN][1000 genomes]
rs9366863	0.81[ASN][1000 genomes]
rs9368830	0.83[ASN][1000 genomes]
rs9368832	0.83[ASN][1000 genomes]
rs9380455	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs9462006	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs9462015	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs9469835	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9469857	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs9469859	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs9469863	0.96[CEU][hapmap];0.96[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	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
8	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	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
10	nsv1032763	chr6:34509776-34552797	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	esv988873	chr6:34548881-34557080	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs205286	UHRF1BP1	cis	Artery Aorta	GTEx
rs205286	UHRF1BP1	cis	Stomach	GTEx
rs205286	UHRF1BP1	cis	Nerve Tibial	GTEx
rs205286	C6orf107	cis	uninvolved skin	skin_eQTL
rs205286	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs205286	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs205286	UHRF1BP1	cis	Whole Blood	GTEx
rs205286	UHRF1BP1	cis	lung	GTEx
rs205286	UHRF1BP1	cis	Artery Tibial	GTEx
rs205286	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs205286	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs205286	UHRF1BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34528800-34551400	Weak transcription	Right Atrium	heart
2	chr6:34535600-34563200	Weak transcription	A549	lung
3	chr6:34536800-34554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
5	chr6:34537400-34552800	Weak transcription	Fetal Intestine Large	intestine
6	chr6:34538000-34555400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:34538800-34552600	Weak transcription	Right Ventricle	heart
8	chr6:34539600-34552800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:34540800-34554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:34541600-34553200	Weak transcription	Lung	lung
11	chr6:34541800-34553400	Weak transcription	HepG2	liver
12	chr6:34542000-34553000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:34542200-34555400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:34542400-34553800	Weak transcription	Liver	Liver
15	chr6:34543200-34552200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:34544200-34555000	Weak transcription	Pancreas	Pancrea
17	chr6:34544600-34553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:34544600-34553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:34545000-34554400	Weak transcription	NHEK	skin
20	chr6:34545200-34552600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:34545200-34552800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:34545400-34554000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:34545800-34551400	Weak transcription	Primary T cells from cord blood	blood
24	chr6:34545800-34552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:34545800-34553200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:34546000-34554000	Weak transcription	Fetal Thymus	thymus
27	chr6:34546000-34559800	Weak transcription	HSMM	muscle
28	chr6:34546200-34553000	Weak transcription	K562	blood
29	chr6:34546400-34555600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:34546600-34552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:34546600-34552600	Weak transcription	Gastric	stomach
32	chr6:34546600-34553000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:34546600-34553200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:34546800-34552400	Weak transcription	Adipose Nuclei	Adipose
35	chr6:34547200-34553200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:34547200-34555600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
38	chr6:34547400-34553400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:34547600-34555400	Weak transcription	Primary B cells from cord blood	blood
40	chr6:34547800-34554200	Weak transcription	Dnd41	blood
41	chr6:34548200-34551600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:34548200-34551600	Weak transcription	Thymus	Thymus
43	chr6:34548200-34553000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:34548200-34554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:34548400-34552600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:34548600-34553000	Weak transcription	GM12878-XiMat	blood
47	chr6:34548800-34555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:34548800-34561400	Weak transcription	Fetal Heart	heart
49	chr6:34549000-34552600	Weak transcription	Brain Anterior Caudate	brain
50	chr6:34549000-34555000	Weak transcription	H9 Cell Line	embryonic stem cell

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