Variant report

Variant	rs12323472
Chromosome Location	chr14:55246262-55246263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55013489..55016252-chr14:55244826..55246985,2	K562	blood:
2	chr14:55204954..55206642-chr14:55245994..55247585,2	K562	blood:
3	chr14:55033006..55034691-chr14:55245816..55248570,2	K562	blood:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10135910	0.95[AFR][1000 genomes]
rs10141060	0.81[ASW][hapmap]
rs10147626	1.00[ASW][hapmap];0.86[LWK][hapmap];0.84[AFR][1000 genomes]
rs10148966	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs17127964	0.95[AFR][1000 genomes]
rs17127970	1.00[CHB][hapmap]
rs2236298	0.85[AMR][1000 genomes]
rs28648747	0.92[AMR][1000 genomes]
rs28695457	0.88[AMR][1000 genomes]
rs7156733	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs8014092	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs9806024	0.83[AFR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240000-55250400	Strong transcription	HepG2	liver
3	chr14:55240600-55251200	Weak transcription	Gastric	stomach
4	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
8	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
9	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:55241000-55249200	Weak transcription	Right Atrium	heart
17	chr14:55241000-55256400	Weak transcription	Ovary	ovary
18	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:55241200-55257600	Weak transcription	K562	blood
23	chr14:55241200-55272200	Weak transcription	A549	lung
24	chr14:55241600-55248600	Strong transcription	Fetal Intestine Large	intestine
25	chr14:55241600-55248600	Strong transcription	Fetal Intestine Small	intestine
26	chr14:55241800-55249000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:55242400-55246400	Enhancers	Liver	Liver
29	chr14:55243000-55246800	Strong transcription	Placenta	Placenta
30	chr14:55243200-55249200	Strong transcription	Left Ventricle	heart
31	chr14:55243400-55247800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:55243400-55251000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:55243600-55247200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:55243600-55249200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:55243600-55250000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:55243600-55250800	Strong transcription	Colon Smooth Muscle	Colon
39	chr14:55243600-55251000	Weak transcription	Brain Anterior Caudate	brain
40	chr14:55243600-55253600	Weak transcription	Thymus	Thymus
41	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:55243800-55246400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr14:55243800-55247200	Weak transcription	Hela-S3	cervix
44	chr14:55243800-55248200	Strong transcription	Fetal Stomach	stomach
45	chr14:55243800-55248600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:55243800-55248600	Weak transcription	Fetal Lung	lung
47	chr14:55243800-55249200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:55243800-55251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:55243800-55253200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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