Variant report

Variant	rs72867440
Chromosome Location	chr6:44979060-44979061
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	chr6:44972423..44974259-chr6:44978944..44980911,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1102212	1.00[AFR][1000 genomes]
rs1284957	1.00[AFR][1000 genomes]
rs1284958	1.00[AFR][1000 genomes]
rs1284963	1.00[AFR][1000 genomes]
rs1284971	1.00[AFR][1000 genomes]
rs1284976	1.00[AFR][1000 genomes]
rs1284977	1.00[AFR][1000 genomes]
rs1284984	1.00[AFR][1000 genomes]
rs1284997	1.00[AFR][1000 genomes]
rs1285016	1.00[AFR][1000 genomes]
rs1329708	1.00[AFR][1000 genomes]
rs1329712	1.00[AFR][1000 genomes]
rs1536906	1.00[AFR][1000 genomes]
rs1576381	1.00[AFR][1000 genomes]
rs1748241	1.00[AFR][1000 genomes]
rs1797162	1.00[AFR][1000 genomes]
rs2396378	1.00[AFR][1000 genomes]
rs4714831	1.00[AFR][1000 genomes]
rs4714835	1.00[AFR][1000 genomes]
rs56000304	1.00[AFR][1000 genomes]
rs56041234	1.00[EUR][1000 genomes]
rs56218508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59024254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592240	1.00[AFR][1000 genomes]
rs625782	1.00[AFR][1000 genomes]
rs686938	1.00[AFR][1000 genomes]
rs72857008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72857044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72857059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72857065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72857066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72865965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72865980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72867405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72867426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869128	1.00[AFR][1000 genomes]
rs72869130	1.00[AFR][1000 genomes]
rs72869143	1.00[AFR][1000 genomes]
rs72869175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72870914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72870922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738603	1.00[AMR][1000 genomes]
rs7763079	1.00[AFR][1000 genomes]
rs7775597	1.00[AFR][1000 genomes]
rs857318	1.00[AFR][1000 genomes]
rs9381356	1.00[AFR][1000 genomes]
rs9395061	1.00[AFR][1000 genomes]
rs9472429	1.00[AFR][1000 genomes]
rs9472430	1.00[AFR][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	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2757164	chr6:44953758-44989519	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44951200-44980800	Weak transcription	Aorta	Aorta
2	chr6:44964600-44981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:44966400-44993600	Weak transcription	HepG2	liver
6	chr6:44969600-44979600	Weak transcription	Ovary	ovary
7	chr6:44970600-44979800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:44971400-44979600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:44971400-44980400	Weak transcription	Dnd41	blood
12	chr6:44971400-44988800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:44972000-44983800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:44975000-44983800	Weak transcription	Brain Anterior Caudate	brain
16	chr6:44977200-44988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:44977600-44980600	Weak transcription	Pancreas	Pancrea
18	chr6:44977600-44993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:44978200-44981200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:44978200-44982800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:44978600-44982600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:44978600-44988600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:44978800-44980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:44979000-44979800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:44979000-44980600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:44979000-44980800	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:44979000-44981000	Weak transcription	Brain Angular Gyrus	brain
28	chr6:44979000-44983200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:44979000-44983400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:44979000-44983600	Weak transcription	Fetal Brain Male	brain

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