Variant report

Variant	rs6826720
Chromosome Location	chr4:3372263-3372264
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	chr4:3371921..3374517-chr4:3376097..3377699,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10026577	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10212869	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12500527	0.81[ASN][1000 genomes]
rs13115912	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138393	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13152170	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16844212	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2343800	0.82[AMR][1000 genomes]
rs35494582	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58982717	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59594429	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6843312	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6855619	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71597208	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7668784	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking 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 target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3339213	chr4:3368054-3372352	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3368000-3373800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:3368800-3372400	Enhancers	Lung	lung
3	chr4:3368800-3376800	Enhancers	Spleen	Spleen
4	chr4:3369200-3374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:3369400-3372800	Weak transcription	HepG2	liver
6	chr4:3369400-3373400	Enhancers	Fetal Stomach	stomach
7	chr4:3369400-3373800	Enhancers	Liver	Liver
8	chr4:3370000-3372400	Enhancers	Fetal Lung	lung
9	chr4:3370000-3374400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr4:3370400-3372400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:3370400-3374600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:3370600-3372400	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:3370600-3372400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr4:3370600-3372400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:3370600-3372400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr4:3370600-3372400	Enhancers	Esophagus	oesophagus
17	chr4:3370600-3372400	Enhancers	HMEC	breast
18	chr4:3370800-3372400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr4:3370800-3372400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:3370800-3372400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:3370800-3372600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:3370800-3373600	Enhancers	Fetal Intestine Large	intestine
23	chr4:3371000-3372400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:3371000-3372400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:3371000-3372400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:3371000-3372400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr4:3371000-3372400	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr4:3371000-3372400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr4:3371000-3372400	Flanking Active TSS	NH-A	brain
30	chr4:3371000-3372400	Flanking Active TSS	Osteobl	bone
31	chr4:3371000-3372600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr4:3371000-3372600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr4:3371000-3373600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:3371000-3374000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:3371000-3374400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:3371200-3372400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr4:3371200-3372400	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr4:3371200-3372400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:3371200-3373600	Flanking Active TSS	HUVEC	blood vessel
40	chr4:3371200-3374000	Weak transcription	Pancreas	Pancrea
41	chr4:3371200-3375800	Weak transcription	Gastric	stomach
42	chr4:3371400-3372400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr4:3371400-3372400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:3371400-3372400	Active TSS	Right Atrium	heart
45	chr4:3371600-3372400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:3371600-3372400	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:3371600-3372400	Flanking Active TSS	Fetal Thymus	thymus
48	chr4:3371600-3372400	Flanking Active TSS	Left Ventricle	heart
49	chr4:3371600-3372400	Flanking Bivalent TSS/Enh	Dnd41	blood
50	chr4:3371600-3372800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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