Variant report

Variant	rs2814979
Chromosome Location	chr6:34578425-34578426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34494469..34496151-chr6:34577655..34579267,2	K562	blood:
2	chr6:34433254..34436133-chr6:34577509..34579305,2	K562	blood:
3	chr6:34577643..34579830-chr6:34629436..34632092,2	K562	blood:
4	chr6:34498308..34501187-chr6:34577541..34579069,2	MCF-7	breast:
5	chr6:34389543..34394732-chr6:34574811..34579307,4	K562	blood:
6	chr6:34204562..34206491-chr6:34577432..34579117,2	K562	blood:
7	chr6:34360143..34362541-chr6:34575968..34579068,3	K562	blood:
8	chr6:34503783..34506203-chr6:34577530..34580135,3	MCF-7	breast:
9	chr6:34359197..34361923-chr6:34576556..34579097,2	K562	blood:
10	chr6:34559418..34564619-chr6:34574111..34579705,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124507	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1201873	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1201874	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs188190	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205258	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205259	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205260	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205262	0.87[AFR][1000 genomes]
rs205283	0.82[EUR][1000 genomes]
rs205286	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235568	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2235569	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2262245	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263329	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2395598	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2395599	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744941	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2744943	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2744944	0.86[ASN][1000 genomes]
rs2744949	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744957	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744959	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744961	0.83[ASN][1000 genomes]
rs2744973	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2744974	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814945	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814947	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814972	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814974	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814975	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814976	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814978	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814980	0.87[ASN][1000 genomes]
rs2814981	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814984	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814987	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814988	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814991	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814992	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2814995	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2815001	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2815004	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs412392	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6937784	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7741398	0.81[ASN][1000 genomes]
rs7771778	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9348950	0.82[ASN][1000 genomes]
rs9380454	0.82[ASN][1000 genomes]
rs9469835	0.83[AMR][1000 genomes];0.85[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	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
13	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
14	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
15	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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2814979	UHRF1BP1	cis	Nerve Tibial	GTEx
rs2814979	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs2814979	UHRF1BP1	cis	Artery Aorta	GTEx
rs2814979	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2814979	UHRF1BP1	cis	lung	GTEx
rs2814979	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2814979	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814979	UHRF1BP1	cis	Whole Blood	GTEx
rs2814979	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2814979	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2814979	UHRF1BP1	cis	Stomach	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
3	chr6:34560400-34578600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34562600-34585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:34563800-34579000	Weak transcription	HMEC	breast
6	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
7	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:34569400-34583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:34570400-34612600	Weak transcription	Brain Anterior Caudate	brain
10	chr6:34570600-34583600	Weak transcription	HSMMtube	muscle
11	chr6:34570600-34610000	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:34570800-34578600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:34570800-34579000	Weak transcription	HSMM	muscle
14	chr6:34570800-34579200	Weak transcription	NH-A	brain
15	chr6:34570800-34581800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:34570800-34582000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:34570800-34584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:34570800-34587000	Weak transcription	Brain Substantia Nigra	brain
19	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:34571000-34578600	Weak transcription	Psoas Muscle	Psoas
21	chr6:34571000-34578600	Weak transcription	Right Atrium	heart
22	chr6:34571000-34585200	Weak transcription	Right Ventricle	heart
23	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:34571400-34578600	Weak transcription	Pancreas	Pancrea
26	chr6:34572400-34612600	Weak transcription	Aorta	Aorta
27	chr6:34573800-34607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:34574400-34584200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:34574400-34612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:34574600-34579800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:34574600-34579800	Weak transcription	Left Ventricle	heart
33	chr6:34574600-34581600	Weak transcription	Fetal Intestine Large	intestine
34	chr6:34574600-34583400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:34574600-34583400	Weak transcription	Spleen	Spleen
36	chr6:34574600-34583800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:34574600-34583800	Weak transcription	Thymus	Thymus
38	chr6:34574600-34585200	Weak transcription	Ovary	ovary
39	chr6:34574600-34598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:34574600-34598200	Weak transcription	Lung	lung
41	chr6:34574600-34612600	Weak transcription	Gastric	stomach
42	chr6:34574600-34613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:34574600-34613600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:34574800-34578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:34574800-34581800	Weak transcription	Fetal Intestine Small	intestine
46	chr6:34574800-34583200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:34574800-34583600	Weak transcription	Esophagus	oesophagus
48	chr6:34574800-34583800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:34574800-34590400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:34574800-34596400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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