Variant report

Variant	rs12192454
Chromosome Location	chr6:144827936-144827937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428720	1.00[EUR][1000 genomes]
rs10457762	1.00[EUR][1000 genomes]
rs12193726	0.86[EUR][1000 genomes]
rs12196635	0.83[AMR][1000 genomes]
rs12200994	1.00[AMR][1000 genomes]
rs12204844	1.00[EUR][1000 genomes]
rs12205085	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205552	1.00[EUR][1000 genomes]
rs12206968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12207034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12208806	1.00[AMR][1000 genomes]
rs12210449	1.00[AMR][1000 genomes]
rs12210566	1.00[AMR][1000 genomes]
rs12211195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212215	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12212750	1.00[AMR][1000 genomes]
rs12215350	1.00[EUR][1000 genomes]
rs12215997	0.87[EUR][1000 genomes]
rs12216212	1.00[AMR][1000 genomes]
rs28362044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28733692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6923012	1.00[EUR][1000 genomes]
rs7749416	1.00[EUR][1000 genomes]
rs9484883	1.00[EUR][1000 genomes]
rs9484885	1.00[EUR][1000 genomes]
rs9496992	1.00[EUR][1000 genomes]
rs9496993	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144764400-144838800	Weak transcription	A549	lung
2	chr6:144795800-144849800	Weak transcription	HMEC	breast
3	chr6:144800000-144829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:144807200-144828800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
7	chr6:144812400-144835000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:144812400-144840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:144812400-144844800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
11	chr6:144812600-144849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:144812600-144849600	Weak transcription	NH-A	brain
13	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:144813400-144850000	Weak transcription	Colonic Mucosa	Colon
15	chr6:144813600-144828800	Weak transcription	Right Ventricle	heart
16	chr6:144813600-144834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:144814800-144834000	Weak transcription	NHLF	lung
18	chr6:144815000-144836200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
20	chr6:144815200-144835000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:144815200-144881000	Weak transcription	NHEK	skin
22	chr6:144815400-144828600	Weak transcription	Ovary	ovary
23	chr6:144816600-144829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:144820200-144828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:144820600-144835000	Weak transcription	Placenta	Placenta
27	chr6:144821000-144828600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:144821000-144828600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:144821000-144828600	Weak transcription	Fetal Stomach	stomach
30	chr6:144821000-144834600	Weak transcription	Osteobl	bone
31	chr6:144821000-144835200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:144821000-144844200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:144821200-144828400	Weak transcription	Thymus	Thymus
34	chr6:144821200-144828600	Weak transcription	Fetal Thymus	thymus
35	chr6:144821200-144828600	Weak transcription	Lung	lung
36	chr6:144821200-144828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:144821200-144828800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:144821200-144828800	Weak transcription	Esophagus	oesophagus
39	chr6:144821200-144828800	Weak transcription	Fetal Intestine Large	intestine
40	chr6:144821200-144828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:144821200-144828800	Weak transcription	Spleen	Spleen
42	chr6:144821200-144829000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:144821200-144835800	Weak transcription	Pancreas	Pancrea
44	chr6:144821200-144836400	Weak transcription	GM12878-XiMat	blood
45	chr6:144821200-144837200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:144821200-144838000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:144821200-144850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:144822400-144828600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:144822400-144828600	Weak transcription	Aorta	Aorta

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