Variant report

Variant	rs2073718
Chromosome Location	chr6:31110969-31110970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31110842-31111491	K562	blood:	n/a	n/a
2	ZNF143	chr6:31110814-31111061	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr6:31110842-31111575	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:31110779-31111039	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:31110764-31111409	PFSK-1	brain:	n/a	n/a
6	RCOR1	chr6:31110438-31111544	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:31110915-31110981	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr6:31110920-31111070	HCPEpiC	choroid plexus:	n/a	n/a
9	POLR2A	chr6:31110856-31111227	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:31110846-31111389	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31096272..31098669-chr6:31109725..31111701,2	MCF-7	breast:
2	chr6:30788219..30790360-chr6:31110500..31112207,2	MCF-7	breast:

Variant related genes	Relation type
PSORS1C2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11965454	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11967883	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190839	0.92[ASN][1000 genomes]
rs17197199	0.92[ASN][1000 genomes]
rs2072108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073716	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229995	0.83[ASN][1000 genomes]
rs59044818	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60483630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61465271	0.83[ASN][1000 genomes]
rs62398818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901657	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9500876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9501058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9501062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9501063	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	25 gene(s)	inside rSNPs	diseases
12	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
13	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
15	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
16	nsv524061	chr6:31107087-31133943	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2073718	CCHCR1	cis	lymphoblastoid	seeQTL
rs2073718	CCHCR1	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31105600-31124400	Weak transcription	Fetal Kidney	kidney
2	chr6:31105600-31124800	Weak transcription	Small Intestine	intestine
3	chr6:31105800-31117000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:31105800-31117200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:31105800-31117800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:31105800-31121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31105800-31122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31105800-31124400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:31105800-31124800	Weak transcription	Hela-S3	cervix
10	chr6:31105800-31125200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:31106000-31111000	Weak transcription	Colonic Mucosa	Colon
12	chr6:31106000-31111800	Weak transcription	GM12878-XiMat	blood
13	chr6:31106000-31112800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:31106000-31125000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:31106000-31125000	Weak transcription	Fetal Brain Male	brain
16	chr6:31106000-31125200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:31107600-31112400	Weak transcription	Lung	lung
18	chr6:31107600-31112400	Weak transcription	Ovary	ovary
19	chr6:31107600-31125000	Weak transcription	NHDF-Ad	bronchial
20	chr6:31107800-31112600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:31107800-31117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:31107800-31125000	Weak transcription	Fetal Heart	heart
23	chr6:31108000-31116200	Weak transcription	Esophagus	oesophagus
24	chr6:31108800-31111000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:31109600-31111200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:31109600-31111400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr6:31109600-31111400	Genic enhancers	Fetal Stomach	stomach
28	chr6:31109600-31111600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:31109600-31112200	Strong transcription	Fetal Intestine Small	intestine
30	chr6:31109600-31113800	Strong transcription	Thymus	Thymus
31	chr6:31109800-31111000	Enhancers	Left Ventricle	heart
32	chr6:31109800-31111000	Enhancers	HSMMtube	muscle
33	chr6:31109800-31111000	Strong transcription	NHEK	skin
34	chr6:31109800-31111600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:31109800-31113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:31109800-31113800	Strong transcription	Liver	Liver
37	chr6:31109800-31113800	Strong transcription	Dnd41	blood
38	chr6:31109800-31114400	Strong transcription	Brain Germinal Matrix	brain
39	chr6:31109800-31114800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:31110000-31111400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:31110000-31111600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:31110000-31111600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:31110000-31111600	Genic enhancers	Fetal Muscle Leg	muscle
44	chr6:31110000-31111800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:31110000-31124600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:31110200-31111000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:31110200-31111000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:31110200-31111000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:31110200-31111000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:31110200-31111000	Enhancers	Duodenum Smooth Muscle	Duodenum

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