Variant report

Variant	rs2237118
Chromosome Location	chr6:15494891-15494892
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	chr6:15494495..15496719-chr6:15502901..15504506,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1474588	0.86[EUR][1000 genomes]
rs2076055	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237113	0.98[ASN][1000 genomes]
rs2237117	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237119	0.98[ASN][1000 genomes]
rs2237121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237123	0.97[ASN][1000 genomes]
rs2237124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237132	0.82[EUR][1000 genomes]
rs2237141	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2237145	0.87[EUR][1000 genomes]
rs2282821	0.84[ASN][1000 genomes]
rs2299045	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299048	0.84[EUR][1000 genomes]
rs3778652	0.84[EUR][1000 genomes]
rs4085876	0.88[EUR][1000 genomes]
rs6459406	0.88[EUR][1000 genomes]
rs7754701	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7754755	0.87[EUR][1000 genomes]
rs9349979	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9370817	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9370819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9383061	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9476827	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv522265	chr6:15494177-15546213	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15471000-15502000	Weak transcription	A549	lung
2	chr6:15484800-15496400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:15486800-15502000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:15487200-15508000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:15489200-15495800	Weak transcription	HMEC	breast
6	chr6:15489200-15496200	Weak transcription	Small Intestine	intestine
7	chr6:15489200-15496800	Weak transcription	Colonic Mucosa	Colon
8	chr6:15489200-15504400	Weak transcription	Fetal Brain Female	brain
9	chr6:15489600-15495400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:15489800-15495200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:15489800-15495600	Weak transcription	Aorta	Aorta
12	chr6:15490000-15495800	Weak transcription	Liver	Liver
13	chr6:15490000-15496200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:15490000-15496400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:15490200-15495200	Weak transcription	Lung	lung
16	chr6:15490200-15495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:15490200-15495600	Weak transcription	Esophagus	oesophagus
18	chr6:15490200-15496400	Weak transcription	Gastric	stomach
19	chr6:15490200-15496400	Weak transcription	Pancreas	Pancrea
20	chr6:15490800-15496800	Enhancers	HSMMtube	muscle
21	chr6:15491000-15495400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:15491200-15495000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:15491400-15496200	Enhancers	Ovary	ovary
24	chr6:15491600-15495000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:15491800-15495200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:15491800-15501400	Weak transcription	NH-A	brain
27	chr6:15492000-15495000	Weak transcription	Placenta	Placenta
28	chr6:15492000-15496800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:15492000-15498400	Weak transcription	Stomach Mucosa	stomach
30	chr6:15492000-15501800	Weak transcription	Fetal Brain Male	brain
31	chr6:15492200-15495200	Weak transcription	Fetal Heart	heart
32	chr6:15492200-15495400	Weak transcription	Fetal Lung	lung
33	chr6:15492200-15495600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:15492200-15495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:15492200-15495800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:15492200-15495800	Weak transcription	Osteobl	bone
37	chr6:15492200-15501200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:15492200-15507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:15492200-15508200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:15492200-15527000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:15492400-15495000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:15492400-15495400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:15492400-15495400	Weak transcription	Brain Angular Gyrus	brain
44	chr6:15492400-15495400	Weak transcription	Brain Anterior Caudate	brain
45	chr6:15492400-15495400	Weak transcription	HSMM	muscle
46	chr6:15492400-15495600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:15492400-15495600	Weak transcription	Adipose Nuclei	Adipose
48	chr6:15492400-15495600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:15492400-15495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:15492400-15495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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