Variant report

Variant	rs72850884
Chromosome Location	chr6:37964338-37964339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37961664..37964407-chr6:37965774..37967604,2	K562	blood:
2	chr6:37959253..37960891-chr6:37963216..37966169,3	K562	blood:
3	chr6:37956692..37960891-chr6:37962737..37966006,6	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11544071	1.00[AFR][1000 genomes]
rs11753390	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11753809	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11755262	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11755592	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11757086	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11757622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11757695	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11759754	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17512095	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17641690	1.00[AFR][1000 genomes]
rs17648097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17648426	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17648634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17648699	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036124	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55753048	1.00[AFR][1000 genomes]
rs56100831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56136126	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59810748	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60943435	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs60977329	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61521259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61705055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68148876	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6910601	1.00[AFR][1000 genomes]
rs6925259	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6930340	0.93[ASN][1000 genomes]
rs72849350	1.00[AFR][1000 genomes]
rs72849359	1.00[AFR][1000 genomes]
rs72849369	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72850806	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72850831	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72850855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72850856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72850871	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72850893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72852516	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72852536	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739801	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7747199	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7767466	1.00[AFR][1000 genomes]
rs994530	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2753764	chr6:37963308-37978172	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
2	chr6:37956200-37965400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:37956200-37978800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:37956600-37967200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:37957800-37976400	Weak transcription	Aorta	Aorta
6	chr6:37959400-37975600	Weak transcription	Left Ventricle	heart
7	chr6:37960800-37982400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:37962000-37973200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:37962200-37975800	Weak transcription	Liver	Liver
10	chr6:37962400-37965200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:37962800-37964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:37962800-37965000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:37962800-37965000	Weak transcription	HSMMtube	muscle
14	chr6:37962800-37965400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:37962800-37966400	Weak transcription	NHDF-Ad	bronchial
16	chr6:37963000-37965200	Weak transcription	Psoas Muscle	Psoas
17	chr6:37963000-37968600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:37963000-37969000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:37963000-37969000	Weak transcription	Fetal Kidney	kidney
20	chr6:37963000-37969400	Weak transcription	Osteobl	bone
21	chr6:37963000-37973400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:37963000-37973400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:37963000-37975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:37963000-37975800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:37963000-37977600	Weak transcription	Ovary	ovary
26	chr6:37963000-37984800	Weak transcription	Right Atrium	heart
27	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:37963400-37964600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:37964000-37964400	Enhancers	HUVEC	blood vessel
30	chr6:37964200-37964400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:37964200-37964400	Enhancers	Adipose Nuclei	Adipose
32	chr6:37964200-37964400	Enhancers	Brain Inferior Temporal Lobe	brain

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