Variant report

Variant	rs34053338
Chromosome Location	chr16:71849974-71849975
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	chr16:71842099..71845312-chr16:71845371..71851524,8	K562	blood:
2	chr16:71815919..71817496-chr16:71847689..71850509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11075903	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641113	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642529	0.86[ASN][1000 genomes]
rs11645704	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11645725	0.86[EUR][1000 genomes]
rs11861296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447094	0.85[EUR][1000 genomes]
rs12919271	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12928939	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12933007	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12935106	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28667298	0.80[EUR][1000 genomes]
rs34531032	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34998650	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386932	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7185027	0.82[ASN][1000 genomes]
rs7197104	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7200447	0.83[EUR][1000 genomes]
rs7202840	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8051878	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8057568	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71843600-71852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71843800-71850000	Weak transcription	Osteobl	bone
3	chr16:71843800-71850400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:71843800-71850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:71843800-71850400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:71843800-71850400	Weak transcription	Fetal Stomach	stomach
7	chr16:71843800-71850600	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:71843800-71850600	Weak transcription	A549	lung
9	chr16:71843800-71850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:71843800-71850800	Weak transcription	HSMM	muscle
11	chr16:71843800-71851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:71843800-71851600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:71843800-71855400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:71843800-71861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:71844000-71850400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:71844000-71859400	Weak transcription	Fetal Intestine Small	intestine
17	chr16:71844200-71850400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:71844200-71850400	Weak transcription	Hela-S3	cervix
19	chr16:71844200-71850600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:71844200-71850600	Weak transcription	Brain Angular Gyrus	brain
21	chr16:71844200-71862200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:71844400-71850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:71844800-71862000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:71845200-71851800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:71845400-71850600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr16:71845600-71850600	Weak transcription	K562	blood
27	chr16:71845600-71851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:71846200-71850400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:71846200-71850600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr16:71846600-71851600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr16:71848600-71852200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:71849000-71850400	Enhancers	Stomach Smooth Muscle	stomach
33	chr16:71849400-71851800	Enhancers	NHLF	lung
34	chr16:71849600-71850000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:71849600-71850400	Weak transcription	HepG2	liver
36	chr16:71849600-71850800	Enhancers	GM12878-XiMat	blood
37	chr16:71849800-71850000	Enhancers	Rectal Smooth Muscle	rectum
38	chr16:71849800-71851800	Enhancers	NHDF-Ad	bronchial

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