Variant report

Variant	rs7339217
Chromosome Location	chr13:97769709-97769710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:97764752..97767509-chr13:97768479..97771289,2	K562	blood:
2	chr13:97768370..97770403-chr13:97772798..97774426,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161888	0.84[EUR][1000 genomes]
rs16953867	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3891672	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55669814	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55736008	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7317617	0.84[EUR][1000 genomes]
rs7326670	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7327112	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7329164	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332122	0.84[EUR][1000 genomes]
rs7334833	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7335512	0.81[EUR][1000 genomes]
rs73553557	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7984448	0.84[EUR][1000 genomes]
rs7988970	0.84[EUR][1000 genomes]
rs9284175	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs947452	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9582110	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832693	chr13:97594845-97777481	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97760600-97770200	Enhancers	Fetal Stomach	stomach
2	chr13:97762000-97770600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:97762800-97773600	Weak transcription	K562	blood
4	chr13:97763600-97770800	Enhancers	Ovary	ovary
5	chr13:97765600-97770800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:97765800-97770200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:97766000-97770200	Enhancers	Aorta	Aorta
8	chr13:97766000-97770400	Enhancers	Fetal Heart	heart
9	chr13:97766400-97770600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:97766600-97770200	Enhancers	Right Ventricle	heart
11	chr13:97766800-97769800	Weak transcription	Psoas Muscle	Psoas
12	chr13:97766800-97772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:97766800-97778200	Weak transcription	Esophagus	oesophagus
14	chr13:97767400-97770000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:97767400-97770000	Enhancers	Hela-S3	cervix
16	chr13:97767600-97770600	Enhancers	Colon Smooth Muscle	Colon
17	chr13:97767800-97770800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr13:97767800-97771800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:97767800-97772000	Enhancers	Rectal Smooth Muscle	rectum
20	chr13:97767800-97776600	Weak transcription	Gastric	stomach
21	chr13:97767800-97777200	Weak transcription	Fetal Kidney	kidney
22	chr13:97768000-97770200	Enhancers	HUVEC	blood vessel
23	chr13:97768000-97770400	Enhancers	Fetal Lung	lung
24	chr13:97768000-97772800	Weak transcription	NHDF-Ad	bronchial
25	chr13:97768000-97773000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:97768000-97773000	Weak transcription	A549	lung
27	chr13:97768000-97777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:97768600-97770000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:97768600-97770000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:97768600-97774000	Weak transcription	Placenta	Placenta
31	chr13:97768800-97769800	Weak transcription	Left Ventricle	heart
32	chr13:97768800-97769800	Enhancers	HMEC	breast
33	chr13:97768800-97770000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:97768800-97770000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:97768800-97770000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr13:97768800-97771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:97768800-97772200	Weak transcription	Brain Substantia Nigra	brain
38	chr13:97768800-97775600	Weak transcription	Lung	lung
39	chr13:97768800-97776200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:97769000-97770000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:97769000-97770000	Enhancers	Stomach Mucosa	stomach
42	chr13:97769000-97770200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:97769000-97772200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr13:97769000-97778400	Weak transcription	Right Atrium	heart
45	chr13:97769200-97770000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:97769200-97770200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr13:97769200-97770800	Enhancers	Stomach Smooth Muscle	stomach
48	chr13:97769200-97771400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:97769200-97771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:97769200-97772200	Weak transcription	Brain Angular Gyrus	brain

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