Variant report

Variant	rs2814946
Chromosome Location	chr6:34651180-34651181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34651137..34654420-chr6:34758676..34761167,3	MCF-7	breast:
2	chr6:34650628..34652210-chr6:34652248..34655112,2	K562	blood:
3	chr6:34649586..34652220-chr6:34663564..34665833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220643	Chromatin interaction
ENSG00000265123	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2395598	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2395599	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2744941	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2744943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744944	0.80[AMR][1000 genomes]
rs2744949	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2744957	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744959	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744961	0.82[AMR][1000 genomes]
rs2814945	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814947	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2814949	0.80[ASN][1000 genomes]
rs2814984	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814987	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814988	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814991	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814992	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2814995	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2815001	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815004	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937784	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7741398	0.80[EUR][1000 genomes]
rs7742652	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7759128	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7763987	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7771778	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9348950	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9357181	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9380454	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9469835	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
10	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
11	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
12	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
13	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
14	esv3429748	chr6:34650942-34651326	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3358802	chr6:34651138-34651298	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2814946	UHRF1BP1	cis	Whole Blood	GTEx
rs2814946	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2814946	UHRF1BP1	cis	Artery Aorta	GTEx
rs2814946	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814946	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs2814946	UHRF1BP1	cis	lung	GTEx
rs2814946	UHRF1BP1	cis	Nerve Tibial	GTEx
rs2814946	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2814946	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2814946	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
4	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
5	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:34639800-34662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:34639800-34662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:34640200-34656600	Weak transcription	Spleen	Spleen
10	chr6:34640800-34655800	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:34641400-34662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:34641600-34654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34641600-34654800	Weak transcription	Dnd41	blood
14	chr6:34641600-34655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:34641800-34656400	Weak transcription	Left Ventricle	heart
16	chr6:34641800-34661200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:34641800-34663200	Weak transcription	Gastric	stomach
18	chr6:34642200-34656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:34642200-34663000	Weak transcription	Thymus	Thymus
20	chr6:34643000-34655400	Weak transcription	Fetal Thymus	thymus
21	chr6:34643000-34655800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34643000-34655800	Weak transcription	Lung	lung
23	chr6:34643000-34656400	Weak transcription	Pancreas	Pancrea
24	chr6:34643000-34661200	Weak transcription	Right Atrium	heart
25	chr6:34643000-34662800	Weak transcription	Stomach Mucosa	stomach
26	chr6:34647800-34652200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:34647800-34652600	Weak transcription	Psoas Muscle	Psoas
28	chr6:34647800-34660800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:34647800-34661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:34647800-34662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:34647800-34662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:34647800-34662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:34647800-34662600	Weak transcription	Ovary	ovary
34	chr6:34647800-34662800	Weak transcription	Brain Substantia Nigra	brain
35	chr6:34647800-34662800	Weak transcription	HSMMtube	muscle
36	chr6:34648000-34651600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:34648000-34662600	Weak transcription	Right Ventricle	heart
38	chr6:34648000-34662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:34648400-34655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:34648400-34662000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:34649200-34651400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:34649200-34652800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:34649200-34660200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:34649200-34660400	Weak transcription	Primary T cells from cord blood	blood
45	chr6:34649200-34662200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:34649200-34662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:34649400-34651400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:34649400-34651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:34649400-34651400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:34649400-34652000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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