Variant report

Variant	rs17224464
Chromosome Location	chr6:134348388-134348389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134273582..134275980-chr6:134345552..134349624,5	K562	blood:
2	chr6:134324417..134327144-chr6:134347973..134349876,2	K562	blood:
3	chr6:134326075..134328376-chr6:134347182..134349156,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13191718	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13197369	0.96[EUR][1000 genomes]
rs13205743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13220797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17822815	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34180332	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73550553	0.95[EUR][1000 genomes]
rs764515	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7739733	0.81[EUR][1000 genomes]
rs9375998	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9376001	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9389133	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9389134	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9402561	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134312400-134349600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:134315400-134355800	Weak transcription	Right Atrium	heart
3	chr6:134318000-134356400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:134325000-134349600	Weak transcription	Left Ventricle	heart
5	chr6:134328600-134361600	Weak transcription	Esophagus	oesophagus
6	chr6:134328800-134349400	Weak transcription	Fetal Lung	lung
7	chr6:134336400-134353000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:134336800-134349600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:134339200-134356000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:134339800-134350400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:134340200-134349200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:134342000-134349200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:134342000-134361600	Weak transcription	Gastric	stomach
14	chr6:134342200-134349400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:134342200-134349600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:134342200-134355600	Weak transcription	Fetal Heart	heart
17	chr6:134342400-134351200	Weak transcription	Right Ventricle	heart
18	chr6:134342600-134349400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:134342800-134352000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:134343200-134355800	Weak transcription	Lung	lung
21	chr6:134345600-134349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:134345600-134349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:134346400-134348400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:134346400-134350200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:134346400-134351200	Weak transcription	Brain Substantia Nigra	brain
26	chr6:134346400-134368800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:134346600-134350600	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:134346600-134351200	Weak transcription	Brain Angular Gyrus	brain
29	chr6:134347600-134348400	Enhancers	K562	blood
30	chr6:134347600-134348600	Enhancers	Liver	Liver
31	chr6:134347800-134348400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:134347800-134348400	Enhancers	Psoas Muscle	Psoas
33	chr6:134347800-134348600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:134347800-134348800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:134347800-134350600	Strong transcription	Brain Anterior Caudate	brain
36	chr6:134347800-134350800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:134348000-134348600	Enhancers	Fetal Intestine Small	intestine
38	chr6:134348000-134350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:134348000-134351200	Weak transcription	NHLF	lung
40	chr6:134348000-134357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:134348200-134348600	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:134348200-134349600	Weak transcription	Aorta	Aorta
43	chr6:134348200-134350000	Weak transcription	A549	lung
44	chr6:134348200-134350600	Weak transcription	Osteobl	bone
45	chr6:134348200-134350800	Weak transcription	HMEC	breast
46	chr6:134348200-134351000	Weak transcription	NH-A	brain
47	chr6:134348200-134351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:134348200-134351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:134348200-134354600	Weak transcription	Pancreas	Pancrea
50	chr6:134348200-134356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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