Variant report

Variant	rs2814975
Chromosome Location	chr6:34573213-34573214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34215533..34217389-chr6:34572989..34575373,2	K562	blood:
2	chr6:34570143..34573485-chr6:34575901..34578410,4	K562	blood:
3	chr6:34567678..34570599-chr6:34570819..34574563,3	K562	blood:
4	chr6:34385629..34388479-chr6:34571535..34574090,2	K562	blood:

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs1201873	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1201874	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12201281	0.81[ASN][1000 genomes]
rs188190	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205258	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205259	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205260	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205286	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2235568	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235569	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2262245	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2263329	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2395598	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2395599	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744941	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744943	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2744944	0.81[ASN][1000 genomes]
rs2744949	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2744957	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2744959	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744973	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2744974	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814945	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814949	0.81[ASN][1000 genomes]
rs2814972	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814974	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814976	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814978	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2814979	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814980	0.82[ASN][1000 genomes]
rs2814981	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814984	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814987	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814988	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814991	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2814992	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814995	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815001	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2815004	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs412392	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6937784	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742652	0.84[ASN][1000 genomes]
rs7759128	0.83[ASN][1000 genomes]
rs7771778	0.81[ASN][1000 genomes]
rs9357181	0.82[ASN][1000 genomes]
rs9368830	0.81[ASN][1000 genomes]
rs9368832	0.81[ASN][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	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2814975	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2814975	UHRF1BP1	cis	lung	GTEx
rs2814975	UHRF1BP1	cis	Artery Aorta	GTEx
rs2814975	UHRF1BP1	cis	Stomach	GTEx
rs2814975	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814975	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2814975	UHRF1BP1	cis	Nerve Tibial	GTEx
rs2814975	UHRF1BP1	cis	Heart Left Ventricle	GTEx
rs2814975	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2814975	UHRF1BP1	cis	Whole Blood	GTEx
rs2814975	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2814975	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34554000-34573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:34554600-34577200	Weak transcription	HUVEC	blood vessel
3	chr6:34555400-34574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:34557200-34573600	Weak transcription	Colonic Mucosa	Colon
6	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
7	chr6:34557600-34573400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:34558000-34573400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:34558000-34573400	Weak transcription	Placenta	Placenta
10	chr6:34558400-34577200	Weak transcription	Hela-S3	cervix
11	chr6:34560200-34573400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:34560400-34578600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34561600-34575400	Strong transcription	Primary T cells from cord blood	blood
14	chr6:34562600-34585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:34563800-34579000	Weak transcription	HMEC	breast
16	chr6:34564000-34578000	Weak transcription	NHDF-Ad	bronchial
17	chr6:34565600-34574200	Weak transcription	Esophagus	oesophagus
18	chr6:34565600-34576000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:34566000-34573600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:34566400-34574200	Strong transcription	GM12878-XiMat	blood
21	chr6:34566600-34574000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:34566600-34575800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:34566800-34574000	Weak transcription	Small Intestine	intestine
24	chr6:34566800-34574800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:34567000-34575800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:34567000-34575800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
28	chr6:34567400-34575800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:34567600-34573400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:34568200-34574200	Weak transcription	Gastric	stomach
32	chr6:34568400-34575800	Strong transcription	Primary B cells from cord blood	blood
33	chr6:34569000-34575800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:34569400-34574600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:34569400-34583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:34570000-34575400	Strong transcription	Dnd41	blood
37	chr6:34570400-34573400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:34570400-34573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:34570400-34574600	Strong transcription	Thymus	Thymus
40	chr6:34570400-34574800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr6:34570400-34612600	Weak transcription	Brain Anterior Caudate	brain
42	chr6:34570600-34573400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:34570600-34574000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:34570600-34583600	Weak transcription	HSMMtube	muscle
45	chr6:34570600-34610000	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:34570800-34573400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:34570800-34573600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:34570800-34573600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:34570800-34573600	Weak transcription	Ovary	ovary
50	chr6:34570800-34573800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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