Variant report

Variant	rs11259957
Chromosome Location	chr15:83536174-83536175
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	chr15:83528501..83531527-chr15:83534305..83537461,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1010820	1.00[ASN][1000 genomes]
rs1105714	1.00[ASN][1000 genomes]
rs11856299	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442894	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358518	1.00[ASN][1000 genomes]
rs17359001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359494	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2019208	1.00[ASN][1000 genomes]
rs2055891	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800901	1.00[ASN][1000 genomes]
rs62011706	1.00[ASN][1000 genomes]
rs62011709	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011712	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011735	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011742	1.00[ASN][1000 genomes]
rs62011744	1.00[ASN][1000 genomes]
rs67022650	1.00[ASN][1000 genomes]
rs7179000	1.00[ASN][1000 genomes]
rs72753993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83507200-83539400	Weak transcription	Fetal Intestine Small	intestine
4	chr15:83514400-83542800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:83519000-83541400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:83519200-83536200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:83519800-83544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:83520000-83543600	Weak transcription	HSMM	muscle
9	chr15:83520000-83549800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:83520000-83563800	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:83520200-83542000	Weak transcription	Brain Angular Gyrus	brain
12	chr15:83520200-83547000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:83522400-83543400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:83522600-83542200	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:83523400-83540000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:83523400-83540800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:83523600-83541400	Weak transcription	Fetal Stomach	stomach
18	chr15:83523600-83558000	Weak transcription	Esophagus	oesophagus
19	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
20	chr15:83524800-83563800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:83526000-83541800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:83527200-83539600	Weak transcription	HSMMtube	muscle
23	chr15:83528000-83540400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:83528000-83540800	Weak transcription	Gastric	stomach
25	chr15:83528000-83542000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:83528000-83544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:83533000-83539400	Weak transcription	Liver	Liver
28	chr15:83534200-83536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:83534600-83539000	Weak transcription	Pancreas	Pancrea
30	chr15:83535000-83538800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:83535600-83536600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:83535800-83536200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr15:83535800-83536800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:83536000-83536200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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