Variant report

Variant	rs6694471
Chromosome Location	chr1:224007383-224007384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224006162..224007955-chr1:224027142..224029222,2	K562	blood:
2	chr1:224000840..224004910-chr1:224006824..224010402,6	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1003061	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153928	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1153944	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1153946	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1153950	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1153952	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1153954	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1222081	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1222123	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1222126	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1222127	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1222147	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1222148	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1222158	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228475	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1538140	0.95[EUR][1000 genomes]
rs16842294	0.81[ASN][1000 genomes]
rs17739	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1982610	0.81[ASN][1000 genomes]
rs1982611	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1982612	0.81[ASN][1000 genomes]
rs1982613	0.81[ASN][1000 genomes]
rs3738370	0.82[ASN][1000 genomes]
rs56329085	0.81[ASN][1000 genomes]
rs56918361	0.82[ASN][1000 genomes]
rs59104475	0.82[ASN][1000 genomes]
rs60131749	0.82[ASN][1000 genomes]
rs60739082	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6604726	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6658724	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6661816	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667215	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698919	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7536779	0.82[ASN][1000 genomes]
rs898878	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:223991200-224007400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:223991200-224007400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:223991400-224007600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:223993400-224008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:223994600-224008200	Weak transcription	Psoas Muscle	Psoas
10	chr1:223995800-224009400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:223996000-224007600	Weak transcription	Hela-S3	cervix
12	chr1:223999600-224007800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:223999800-224010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:224000200-224007400	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:224001000-224010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224001400-224007600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:224001400-224008400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:224001800-224010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:224001800-224010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:224002000-224007600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:224002000-224007600	Weak transcription	Fetal Kidney	kidney
22	chr1:224002000-224007600	Weak transcription	Lung	lung
23	chr1:224002000-224007600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:224002000-224008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:224002000-224008200	Weak transcription	Spleen	Spleen
26	chr1:224002000-224008400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:224002000-224015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:224002200-224007600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:224002200-224007800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:224002200-224008000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:224002200-224013000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:224002200-224020200	Weak transcription	Placenta	Placenta
34	chr1:224002200-224020200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:224002400-224007400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:224002400-224007400	Weak transcription	NHLF	lung
37	chr1:224002400-224007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:224002400-224007600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:224002400-224007800	Weak transcription	Thymus	Thymus
40	chr1:224002400-224008400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:224002400-224010800	Weak transcription	Small Intestine	intestine
42	chr1:224002400-224013600	Weak transcription	Esophagus	oesophagus
43	chr1:224003200-224009200	Strong transcription	Fetal Thymus	thymus
44	chr1:224003400-224013200	Weak transcription	HepG2	liver
45	chr1:224003600-224007600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:224003600-224008200	Weak transcription	Left Ventricle	heart
47	chr1:224003800-224013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:224003800-224014800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:224004000-224007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:224004000-224007400	Weak transcription	Primary B cells from cord blood	blood

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