Variant report

Variant	rs2271269
Chromosome Location	chr16:12337222-12337223
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	chr16:12337009..12339047-chr16:12342859..12345262,2	MCF-7	breast:
2	chr16:12336325..12340417-chr16:12341873..12346410,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1032887	0.91[ASN][1000 genomes]
rs10500378	0.95[ASN][1000 genomes]
rs10500380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12447994	0.95[ASN][1000 genomes]
rs13332306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13380622	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16959078	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16959080	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16959097	0.91[ASN][1000 genomes]
rs16959100	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16959126	0.91[ASN][1000 genomes]
rs16959130	0.91[ASN][1000 genomes]
rs28408454	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41325045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs60280624	0.91[ASN][1000 genomes]
rs6498273	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187929	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7189091	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058627	0.91[ASN][1000 genomes]
rs8062145	1.00[ASN][1000 genomes]
rs870641	0.91[ASN][1000 genomes]
rs905948	0.91[ASN][1000 genomes]
rs9927344	0.91[ASN][1000 genomes]
rs9929445	1.00[JPT][hapmap]
rs9940308	1.00[JPT][hapmap];0.83[ASN][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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12322400-12338000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr16:12322600-12353600	Weak transcription	Lung	lung
6	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:12324400-12340600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:12324600-12337400	Weak transcription	Fetal Intestine Small	intestine
11	chr16:12325600-12339600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:12330600-12339600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:12330800-12337400	Weak transcription	Thymus	Thymus
14	chr16:12330800-12349800	Weak transcription	Primary T cells from cord blood	blood
15	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:12331000-12339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:12331200-12337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:12333200-12350600	Weak transcription	Esophagus	oesophagus
19	chr16:12333200-12353200	Weak transcription	Spleen	Spleen
20	chr16:12334000-12356600	Weak transcription	Right Atrium	heart
21	chr16:12334200-12337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:12334400-12356200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12334600-12339200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:12334600-12371800	Weak transcription	Adipose Nuclei	Adipose
25	chr16:12334800-12337600	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:12334800-12339000	Weak transcription	Fetal Brain Male	brain
27	chr16:12334800-12339600	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:12334800-12339600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:12334800-12339600	Weak transcription	Pancreas	Pancrea
30	chr16:12334800-12339600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:12334800-12339600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:12334800-12340000	Weak transcription	Psoas Muscle	Psoas
33	chr16:12335400-12339600	Weak transcription	Brain Anterior Caudate	brain
34	chr16:12335800-12339400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:12336200-12339600	Strong transcription	Primary B cells from cord blood	blood
36	chr16:12336800-12337800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:12336800-12337800	ZNF genes & repeats	GM12878-XiMat	blood
38	chr16:12337000-12338200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:12337000-12338400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:12337000-12339600	Weak transcription	Fetal Muscle Trunk	muscle

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