Variant report

Variant	rs17592979
Chromosome Location	chr13:110867190-110867191
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110857435..110860211-chr13:110864399..110867321,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2305079	0.80[CEU][hapmap]
rs3737327	0.89[EUR][1000 genomes]
rs3737328	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825474	0.80[JPT][hapmap]
rs622486	0.81[CEU][hapmap]
rs635230	0.81[CEU][hapmap]
rs645114	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9515167	0.81[CEU][hapmap]
rs9521650	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]

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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
4	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:110829600-110874400	Weak transcription	A549	lung
6	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
7	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
9	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
10	chr13:110840800-110870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:110841000-110868200	Weak transcription	NHDF-Ad	bronchial
12	chr13:110841200-110868200	Weak transcription	Right Atrium	heart
13	chr13:110841400-110867800	Strong transcription	Osteobl	bone
14	chr13:110846400-110869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
16	chr13:110850200-110868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:110852000-110868200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:110852000-110869800	Weak transcription	Brain Germinal Matrix	brain
19	chr13:110853400-110868200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:110853600-110879800	Weak transcription	Gastric	stomach
21	chr13:110854000-110868000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:110857200-110867200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:110857200-110867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:110857600-110867200	Strong transcription	Fetal Stomach	stomach
25	chr13:110857600-110868000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:110858800-110867400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:110858800-110868400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:110859000-110868000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:110860000-110867400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:110861400-110870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:110862400-110868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:110862800-110869600	Weak transcription	HMEC	breast
33	chr13:110863600-110867200	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr13:110863800-110868600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:110863800-110869200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:110864000-110868400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:110864200-110867200	Genic enhancers	Fetal Muscle Leg	muscle
38	chr13:110864600-110868000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:110864800-110867200	Strong transcription	Spleen	Spleen
40	chr13:110865200-110871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:110865400-110868200	Weak transcription	HSMM	muscle
42	chr13:110865400-110868400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:110865400-110868600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:110865400-110869000	Weak transcription	Liver	Liver
45	chr13:110865400-110874400	Weak transcription	Colonic Mucosa	Colon
46	chr13:110865600-110868000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:110865600-110868000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:110865600-110868400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:110865600-110868800	Weak transcription	Fetal Kidney	kidney
50	chr13:110865800-110867200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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