Variant report

Variant	rs9323280
Chromosome Location	chr14:55801687-55801688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55799382..55802320-chr14:55805290..55807790,2	K562	blood:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
3	chr14:55795389..55798237-chr14:55800150..55802367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10133915	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs10134838	0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10136880	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs10138259	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs10138395	0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10483641	0.80[CEU][hapmap]
rs13379052	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17128417	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs17672950	0.80[EUR][1000 genomes]
rs17673930	0.86[EUR][1000 genomes]
rs17741681	0.86[EUR][1000 genomes]
rs17741825	0.86[EUR][1000 genomes]
rs17743484	0.80[CEU][hapmap]
rs1959443	0.80[CEU][hapmap]
rs35070799	0.86[EUR][1000 genomes]
rs3742567	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs41437744	0.80[CEU][hapmap]
rs6573008	0.88[JPT][hapmap]
rs713473	0.80[CEU][hapmap]
rs713475	0.80[CEU][hapmap]
rs7159490	0.81[JPT][hapmap]
rs8009660	0.84[CHB][hapmap];0.94[JPT][hapmap]

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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
3	chr14:55780600-55806200	Weak transcription	HMEC	breast
4	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55782000-55817200	Weak transcription	HSMM	muscle
6	chr14:55786800-55803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
9	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:55794400-55803000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:55795000-55806600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:55797600-55803000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:55797800-55807800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:55798800-55801800	Enhancers	Fetal Intestine Large	intestine
18	chr14:55798800-55802000	Enhancers	Small Intestine	intestine
19	chr14:55798800-55802200	Enhancers	Fetal Intestine Small	intestine
20	chr14:55798800-55802200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:55799000-55801800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr14:55799000-55802000	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:55799000-55802000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:55799000-55802800	Enhancers	A549	lung
25	chr14:55799000-55804000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:55799400-55803600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:55799600-55804400	Enhancers	Fetal Kidney	kidney
28	chr14:55799800-55802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:55799800-55804200	Weak transcription	Fetal Thymus	thymus
30	chr14:55800000-55802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:55800000-55802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:55800000-55804400	Weak transcription	K562	blood
33	chr14:55800000-55805000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:55800000-55806600	Weak transcription	Brain Angular Gyrus	brain
35	chr14:55800000-55806600	Weak transcription	Left Ventricle	heart
36	chr14:55800000-55806800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:55800000-55817200	Weak transcription	Dnd41	blood
38	chr14:55800200-55802200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:55800200-55805400	Enhancers	Stomach Mucosa	stomach
40	chr14:55800400-55802000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:55800600-55801800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:55800600-55801800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:55800600-55801800	Enhancers	Pancreas	Pancrea
44	chr14:55800600-55801800	Enhancers	Psoas Muscle	Psoas
45	chr14:55800600-55801800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
47	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:55800800-55801800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:55800800-55801800	Enhancers	Lung	lung
50	chr14:55800800-55801800	Enhancers	Ovary	ovary

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