Variant report

Variant	rs72852555
Chromosome Location	chr6:38048157-38048158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38046808..38049767-chr6:38051666..38053888,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11751393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11752354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753390	1.00[AFR][1000 genomes]
rs11755262	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11755824	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11757371	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13552	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16890376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890395	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17649606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17649630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55898002	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59522592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59810748	1.00[AFR][1000 genomes]
rs68148876	1.00[AFR][1000 genomes]
rs6925259	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6930340	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72852516	1.00[AFR][1000 genomes]
rs72852536	0.90[AMR][1000 genomes]
rs72852565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72852588	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs994530	1.00[AFR][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	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	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
3	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
4	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
5	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
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:38023000-38054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:38023200-38052800	Weak transcription	Gastric	stomach
4	chr6:38026200-38053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:38031400-38052400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:38031600-38048200	Weak transcription	HUVEC	blood vessel
8	chr6:38031600-38048600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:38031600-38049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:38031600-38053200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:38031600-38059600	Weak transcription	Spleen	Spleen
12	chr6:38031600-38061600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:38032000-38052600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:38032000-38052600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:38032200-38048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:38032200-38048400	Weak transcription	HSMM	muscle
17	chr6:38032200-38048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:38032200-38051400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:38032400-38050800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:38032400-38056200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:38032800-38050000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:38032800-38050000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:38032800-38050000	Weak transcription	Dnd41	blood
24	chr6:38032800-38050000	Weak transcription	NHEK	skin
25	chr6:38033000-38051200	Weak transcription	Fetal Intestine Large	intestine
26	chr6:38033000-38052600	Weak transcription	Lung	lung
27	chr6:38033000-38063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:38033200-38048400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:38033200-38050000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:38033200-38051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:38033400-38048200	Weak transcription	NH-A	brain
32	chr6:38033600-38050800	Weak transcription	Placenta	Placenta
33	chr6:38034200-38050200	Weak transcription	HSMMtube	muscle
34	chr6:38034200-38051200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:38035200-38051000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:38035400-38050800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:38035800-38050400	Weak transcription	GM12878-XiMat	blood
39	chr6:38035800-38051000	Weak transcription	Ovary	ovary
40	chr6:38036200-38050200	Weak transcription	Fetal Thymus	thymus
41	chr6:38036400-38050000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:38036400-38075000	Weak transcription	Thymus	Thymus
43	chr6:38036600-38048400	Weak transcription	Psoas Muscle	Psoas
44	chr6:38036800-38050200	Weak transcription	Left Ventricle	heart
45	chr6:38037200-38052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:38041000-38050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:38041400-38048400	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:38042800-38048400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:38042800-38060000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:38043000-38050000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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