Variant report

Variant	rs9323281
Chromosome Location	chr14:55821101-55821102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55727647..55729391-chr14:55818839..55821445,2	MCF-7	breast:
2	chr14:55764219..55765273-chr14:55820714..55821903,4	MCF-7	breast:
3	chr14:55813775..55816746-chr14:55819381..55821287,2	MCF-7	breast:
4	chr14:55679455..55680007-chr14:55821048..55821633,3	K562	blood:
5	chr14:55737683..55738577-chr14:55820987..55821926,2	MCF-7	breast:
6	chr14:55812369..55814760-chr14:55818097..55821866,3	MCF-7	breast:
7	chr14:55820434..55823262-chr14:55823747..55828312,4	K562	blood:
8	chr14:55737428..55739982-chr14:55820352..55823007,3	K562	blood:
9	chr14:55817121..55819281-chr14:55819678..55821286,2	MCF-7	breast:
10	chr14:55737488..55738478-chr14:55820977..55822074,28	MCF-7	breast:
11	chr14:55737506..55738720-chr14:55820321..55822020,12	MCF-7	breast:
12	chr14:55737146..55740453-chr14:55819969..55824723,7	MCF-7	breast:
13	chr14:55737620..55738471-chr14:55821039..55821977,3	K562	blood:
14	chr14:55736773..55740408-chr14:55819454..55822170,5	MCF-7	breast:
15	chr14:55737789..55738706-chr14:55821094..55822088,2	MCF-7	breast:
16	chr14:55809381..55811401-chr14:55819564..55823074,3	MCF-7	breast:
17	chr14:55712140..55713012-chr14:55821024..55821977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10129944	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10132251	1.00[EUR][1000 genomes]
rs10133839	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10134482	1.00[EUR][1000 genomes]
rs10134533	1.00[EUR][1000 genomes]
rs10135042	1.00[EUR][1000 genomes]
rs10138287	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10140700	1.00[EUR][1000 genomes]
rs10141962	1.00[EUR][1000 genomes]
rs10142150	1.00[EUR][1000 genomes]
rs10142435	1.00[EUR][1000 genomes]
rs10143190	1.00[EUR][1000 genomes]
rs10438128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128286	1.00[EUR][1000 genomes]
rs17128299	1.00[EUR][1000 genomes]
rs17128411	1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128493	1.00[EUR][1000 genomes]
rs17128496	1.00[EUR][1000 genomes]
rs28458773	1.00[EUR][1000 genomes]
rs28459500	1.00[EUR][1000 genomes]
rs28488729	1.00[EUR][1000 genomes]
rs28584735	1.00[EUR][1000 genomes]
rs34630492	1.00[EUR][1000 genomes]
rs60302297	1.00[EUR][1000 genomes]
rs60342915	1.00[EUR][1000 genomes]
rs61106193	1.00[EUR][1000 genomes]
rs73285833	1.00[EUR][1000 genomes]
rs8010658	1.00[MEX][hapmap]
rs8015485	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
3	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:55814000-55830400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
7	chr14:55816000-55837200	Weak transcription	K562	blood
8	chr14:55816400-55823600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:55816600-55823000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:55817000-55822800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:55817200-55822800	Strong transcription	GM12878-XiMat	blood
12	chr14:55817200-55823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:55817200-55823200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55817200-55823200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55817200-55823800	Strong transcription	Dnd41	blood
16	chr14:55817200-55826200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:55817200-55826400	Strong transcription	Fetal Stomach	stomach
18	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
19	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
20	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:55818400-55821800	Weak transcription	Fetal Lung	lung
22	chr14:55818400-55832400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:55819000-55835200	Weak transcription	NH-A	brain
26	chr14:55819200-55821200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:55819200-55821600	Weak transcription	Brain Germinal Matrix	brain
28	chr14:55819200-55822000	Weak transcription	NHLF	lung
29	chr14:55819200-55831600	Weak transcription	Aorta	Aorta
30	chr14:55819200-55832400	Weak transcription	HUVEC	blood vessel
31	chr14:55819200-55835400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:55819200-55836400	Weak transcription	Ovary	ovary
33	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:55819400-55821200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:55819400-55822000	Weak transcription	Esophagus	oesophagus
36	chr14:55819400-55822200	Weak transcription	Adipose Nuclei	Adipose
37	chr14:55819400-55823000	Weak transcription	HepG2	liver
38	chr14:55819400-55832200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:55819400-55832200	Weak transcription	Pancreas	Pancrea
40	chr14:55819400-55833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:55819600-55821800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:55819600-55821800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:55819600-55821800	Weak transcription	Spleen	Spleen
47	chr14:55819600-55822000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:55819600-55822400	Weak transcription	Right Ventricle	heart
49	chr14:55819600-55824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:55819600-55831800	Weak transcription	Primary hematopoietic stem cells	blood

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