Variant report

Variant	rs16896235
Chromosome Location	chr6:34958841-34958842
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34952785..34956692-chr6:34957031..34961884,7	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11970238	0.96[ASN][1000 genomes]
rs12173920	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12175621	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12176092	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16894945	0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs16894995	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs16895362	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16895467	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273007	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3734260	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3734263	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3756857	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3756858	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3798349	0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs3800439	0.90[ASN][1000 genomes]
rs3800442	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800447	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3800449	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3807051	0.93[ASN][1000 genomes]
rs4646923	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57608318	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58764768	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60509690	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60815469	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6906552	0.89[ASN][1000 genomes]
rs73403805	0.90[ASN][1000 genomes]
rs73421513	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73421527	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73421528	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73421536	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73421541	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs847849	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9348952	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9348954	0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9348955	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9348956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348957	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9357186	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357189	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357191	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366871	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9366873	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368840	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368842	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368844	0.88[ASN][1000 genomes]
rs9380471	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380472	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9380475	0.91[ASN][1000 genomes]
rs9380478	0.90[ASN][1000 genomes]
rs9394253	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394257	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394258	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394259	0.86[CHB][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9394261	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394262	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394264	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394265	0.92[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs9394267	0.92[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16896235	UHRF1BP1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
3	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
7	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:34945200-34962200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:34948200-34963600	Strong transcription	Fetal Intestine Large	intestine
13	chr6:34948600-34967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34948800-34963600	Strong transcription	Primary T cells from cord blood	blood
15	chr6:34948800-34963600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:34948800-34964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:34949200-34963200	Strong transcription	Fetal Thymus	thymus
18	chr6:34949200-34963400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:34949200-34963600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr6:34949400-34962800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:34949400-34963600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:34949800-34966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:34950000-34963200	Strong transcription	Primary B cells from cord blood	blood
24	chr6:34950600-34960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:34950600-34964200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:34950800-34960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:34951000-34959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:34951200-34960400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:34951400-34961400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:34951800-34963600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:34953200-34959000	Weak transcription	Aorta	Aorta
32	chr6:34953200-34959800	Weak transcription	Gastric	stomach
33	chr6:34953200-34960000	Weak transcription	Pancreas	Pancrea
34	chr6:34953200-34961000	Weak transcription	Brain Germinal Matrix	brain
35	chr6:34953200-34963400	Weak transcription	GM12878-XiMat	blood
36	chr6:34954400-34960000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:34954600-34960000	Weak transcription	Fetal Stomach	stomach
38	chr6:34954600-34962000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:34954800-34962200	Weak transcription	A549	lung
40	chr6:34955000-34962800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:34955000-34973600	Weak transcription	Stomach Mucosa	stomach
42	chr6:34955200-34959000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:34955200-34959800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:34955200-34960000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:34955200-34964600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:34955400-34959800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:34955400-34960000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:34955400-34960200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:34955400-34964000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:34955400-34967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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