Variant report

Variant	rs229580
Chromosome Location	chr14:65272305-65272306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65272282..65274917-chr14:65276747..65279585,3	MCF-7	breast:
2	chr14:65263442..65265552-chr14:65270691..65273167,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs151165	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs1741466	0.87[CEU][hapmap]
rs17767662	0.80[CHB][hapmap]
rs192036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2269295	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs2269296	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs2269297	0.81[CEU][hapmap]
rs229581	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs229586	0.83[JPT][hapmap]
rs229587	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs229588	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs229589	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs229591	0.92[CEU][hapmap]
rs229628	0.83[CEU][hapmap]
rs229673	0.80[YRI][hapmap]
rs230703	0.83[CEU][hapmap]
rs230704	0.83[CEU][hapmap]
rs368194	0.87[CEU][hapmap]
rs4902317	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497139	chr14:65269187-65272402	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3497140	chr14:65269220-65272362	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3428022	chr14:65269324-65272483	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65232200-65274200	Weak transcription	Gastric	stomach
2	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
5	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
6	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65266000-65272400	Weak transcription	Aorta	Aorta
10	chr14:65267200-65272600	Weak transcription	Pancreas	Pancrea
11	chr14:65267400-65272400	Weak transcription	Hela-S3	cervix
12	chr14:65267400-65273200	Weak transcription	Fetal Heart	heart
13	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
14	chr14:65268600-65272600	Weak transcription	Left Ventricle	heart
15	chr14:65269200-65272600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:65269200-65274400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65269600-65272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:65270600-65274400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:65271200-65272600	Weak transcription	HSMMtube	muscle
20	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:65271600-65273800	Weak transcription	Right Ventricle	heart
22	chr14:65271600-65274600	Enhancers	HMEC	breast
23	chr14:65271600-65274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:65271600-65274800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:65271800-65272600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:65271800-65272600	Enhancers	NHEK	skin
27	chr14:65271800-65272800	Enhancers	NH-A	brain
28	chr14:65271800-65273800	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:65271800-65274000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr14:65271800-65274200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:65271800-65274200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:65271800-65274200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:65271800-65274400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:65271800-65274600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:65272000-65272600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:65272000-65273200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:65272000-65273200	Weak transcription	K562	blood
38	chr14:65272000-65274000	Flanking Active TSS	A549	lung
39	chr14:65272200-65272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:65272200-65273800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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