Variant report

Variant	rs72961085
Chromosome Location	chr6:127657892-127657893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127647790..127650331-chr6:127657828..127660757,2	K562	blood:
2	chr6:127608699..127610786-chr6:127657658..127660548,2	K562	blood:
3	chr6:127653275..127659045-chr6:127660567..127666525,9	MCF-7	breast:
4	chr6:127585889..127589221-chr6:127657854..127661631,3	K562	blood:

Variant related genes	Relation type
ENSG00000093144	Chromatin interaction
ENSG00000118518	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17054536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875981	0.84[ASN][1000 genomes]
rs3798856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285264	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155196	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56412751	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59930939	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886957	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61498440	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909390	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937599	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72961030	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72961049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961060	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961071	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963107	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964327	0.89[EUR][1000 genomes];0.83[ASN][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	nsv604641	chr6:127657099-127719062	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127605000-127660800	Weak transcription	Hela-S3	cervix
2	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:127608800-127663600	Weak transcription	Gastric	stomach
5	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
6	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
8	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:127622000-127661400	Weak transcription	NHEK	skin
10	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
12	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:127629800-127661200	Weak transcription	A549	lung
15	chr6:127634800-127661400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:127635000-127658000	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:127635800-127659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:127645400-127661400	Weak transcription	Right Ventricle	heart
19	chr6:127645800-127661000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:127646600-127660200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:127647600-127660200	Weak transcription	HSMMtube	muscle
22	chr6:127647600-127661000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:127647600-127661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:127647600-127661400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:127647600-127661600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:127647600-127661600	Weak transcription	Fetal Intestine Small	intestine
27	chr6:127647600-127662600	Weak transcription	Brain Angular Gyrus	brain
28	chr6:127647600-127662800	Weak transcription	Fetal Stomach	stomach
29	chr6:127647600-127662800	Weak transcription	Thymus	Thymus
30	chr6:127647600-127663000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:127647800-127658800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:127647800-127660600	Weak transcription	Psoas Muscle	Psoas
33	chr6:127647800-127661000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:127647800-127661400	Weak transcription	Left Ventricle	heart
35	chr6:127647800-127661400	Weak transcription	Ovary	ovary
36	chr6:127648000-127663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:127648200-127659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:127648200-127659800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:127648200-127660000	Weak transcription	Fetal Brain Female	brain
40	chr6:127648200-127662000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:127648400-127658000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:127648400-127660400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:127648400-127660600	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:127648400-127660600	Weak transcription	Placenta	Placenta
45	chr6:127648400-127662600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:127648600-127659000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:127648600-127660600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:127649000-127661400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:127649000-127662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:127649400-127661400	Weak transcription	Rectal Mucosa Donor 29	rectum

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