Variant report

Variant	rs72946518
Chromosome Location	chr6:107092922-107092923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17067603	0.93[ASN][1000 genomes]
rs17506892	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565194	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36016898	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804344	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57273146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328278	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60992370	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66665063	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66991204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67667413	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903818	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911321	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925169	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945076	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72946522	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946537	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73509819	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750387	0.92[EUR][1000 genomes]
rs7771502	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
2	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
5	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:107078600-107106600	Weak transcription	NH-A	brain
8	chr6:107078600-107110200	Weak transcription	NHLF	lung
9	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
10	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
12	chr6:107078800-107093600	Weak transcription	NHEK	skin
13	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:107085400-107100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:107085400-107114000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:107086000-107094200	Strong transcription	Primary T cells from cord blood	blood
17	chr6:107086400-107104400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:107086600-107094400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:107086600-107098200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:107087200-107112600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:107087400-107094200	Weak transcription	A549	lung
22	chr6:107087400-107106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:107087600-107095600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:107087800-107094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:107087800-107094400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:107087800-107094600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:107087800-107094600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr6:107087800-107094800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:107087800-107095400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:107087800-107104000	Strong transcription	Dnd41	blood
31	chr6:107088000-107094600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:107088000-107095400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:107088000-107104000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:107088000-107106000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:107088000-107108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:107088200-107094600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:107088200-107095000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:107088200-107106200	Weak transcription	Small Intestine	intestine
39	chr6:107088400-107094600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:107088400-107095600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:107088800-107094400	Strong transcription	Primary B cells from cord blood	blood
42	chr6:107088800-107094400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr6:107089000-107093000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:107089000-107093000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:107089000-107095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:107089000-107104600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:107089000-107105800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:107089200-107093200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr6:107089200-107094400	Strong transcription	GM12878-XiMat	blood
50	chr6:107089200-107097200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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