Variant report

Variant	rs6651044
Chromosome Location	chr7:64156387-64156388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1104867	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768255	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230561	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13231070	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1596929	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17779754	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838901	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862797	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862798	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2902328	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34126100	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718096	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718100	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460173	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651043	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962303	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73361894	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7385908	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv16290	chr7:64058602-64162829	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
15	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6651044	ZNF107	cis	Esophagus Muscularis	GTEx
rs6651044	ZNF107	cis	lung	GTEx
rs6651044	ZNF107	cis	Stomach	GTEx
rs6651044	ZNF107	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64128200-64167600	Weak transcription	Hela-S3	cervix
2	chr7:64128200-64168000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:64128800-64168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:64138600-64162200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:64138600-64168400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:64141000-64159800	Weak transcription	Stomach Mucosa	stomach
7	chr7:64143800-64167000	Weak transcription	Fetal Heart	heart
8	chr7:64145400-64159800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:64145400-64166800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:64145600-64163000	Weak transcription	Right Ventricle	heart
11	chr7:64145800-64156400	Weak transcription	Ovary	ovary
12	chr7:64145800-64156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:64146000-64167000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:64146400-64159800	Weak transcription	NH-A	brain
15	chr7:64146400-64166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:64146600-64158400	Weak transcription	Fetal Kidney	kidney
17	chr7:64146600-64158600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:64146600-64159800	Weak transcription	Colonic Mucosa	Colon
19	chr7:64146600-64166200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:64146800-64157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:64146800-64163200	Weak transcription	Gastric	stomach
22	chr7:64146800-64167000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:64147000-64159800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:64147400-64161800	Weak transcription	HSMMtube	muscle
25	chr7:64147800-64159800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:64147800-64159800	Weak transcription	Small Intestine	intestine
27	chr7:64148000-64159800	Weak transcription	Spleen	Spleen
28	chr7:64148000-64162800	Weak transcription	HepG2	liver
29	chr7:64148000-64163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:64148600-64159800	Weak transcription	Left Ventricle	heart
31	chr7:64148800-64156800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:64150200-64159800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:64150200-64160400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:64150200-64166200	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:64150400-64159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:64150400-64166800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:64151000-64157000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:64151600-64156400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:64151600-64158200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:64151600-64161400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:64151800-64159800	Weak transcription	Fetal Brain Male	brain
42	chr7:64152400-64159800	Weak transcription	HUVEC	blood vessel
43	chr7:64152800-64160400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:64153000-64159800	Weak transcription	Placenta	Placenta
45	chr7:64153400-64156800	Weak transcription	K562	blood
46	chr7:64153400-64157400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:64153400-64161600	Weak transcription	Osteobl	bone
48	chr7:64153800-64157000	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr7:64153800-64157200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr7:64153800-64157200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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