Variant report

Variant	rs9323271
Chromosome Location	chr14:55241645-55241646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
2	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
3	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
4	chr14:55191841..55194822-chr14:55240069..55241677,2	K562	blood:
5	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17127944	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17127987	1.00[CHB][hapmap]
rs17128017	1.00[CHB][hapmap]
rs17253577	1.00[CHB][hapmap]
rs17253584	1.00[CHB][hapmap]
rs2183080	1.00[CHB][hapmap]
rs55874539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323270	0.96[YRI][hapmap];0.90[AFR][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	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
2	esv3400598	chr14:55241589-55242017	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55241800	Enhancers	Placenta	Placenta
3	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
5	chr14:55237600-55241800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
8	chr14:55239000-55244000	Enhancers	HMEC	breast
9	chr14:55239600-55241800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:55240000-55243200	Enhancers	NH-A	brain
12	chr14:55240000-55244000	Genic enhancers	NHEK	skin
13	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr14:55240000-55250400	Strong transcription	HepG2	liver
15	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:55240200-55244400	Genic enhancers	NHLF	lung
17	chr14:55240400-55242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:55240600-55241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:55240600-55242000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:55240600-55242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:55240600-55243000	Weak transcription	Fetal Lung	lung
22	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:55240600-55251200	Weak transcription	Gastric	stomach
24	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:55240800-55241800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:55240800-55241800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:55240800-55241800	Enhancers	NHDF-Ad	bronchial
32	chr14:55240800-55242800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:55240800-55242800	Weak transcription	Aorta	Aorta
34	chr14:55240800-55242800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:55240800-55242800	Weak transcription	Fetal Thymus	thymus
36	chr14:55240800-55242800	Weak transcription	GM12878-XiMat	blood
37	chr14:55240800-55243000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:55240800-55243000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:55240800-55244200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
42	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
43	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
47	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:55241000-55241800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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