Variant report

Variant	rs4902317
Chromosome Location	chr14:65270024-65270025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
2	chr14:65269057..65270107-chr14:65289880..65290862,3	MCF-7	breast:
3	chr14:65268763..65270591-chr14:65452749..65454968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1271040	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151165	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1741466	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17767662	0.84[ASN][1000 genomes]
rs179383	0.80[EUR][1000 genomes]
rs192036	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038433	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2269295	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2269296	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2269297	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs229580	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs229581	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229587	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229588	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229589	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229591	0.87[CEU][hapmap]
rs229627	0.82[CEU][hapmap]
rs229628	0.86[CEU][hapmap]
rs229672	0.84[ASN][1000 genomes]
rs229673	0.84[ASN][1000 genomes]
rs229675	0.84[ASN][1000 genomes]
rs230703	0.83[EUR][1000 genomes]
rs230704	0.83[EUR][1000 genomes]
rs368194	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs375510	0.85[EUR][1000 genomes]
rs3819928	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs433143	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017385	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3497139	chr14:65269187-65272402	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3497140	chr14:65269220-65272362	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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:35 , 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	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
4	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
6	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
7	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
8	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
12	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:65263400-65271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:65266000-65272400	Weak transcription	Aorta	Aorta
17	chr14:65267000-65271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:65267200-65271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:65267200-65272000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:65267200-65272200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:65267200-65272600	Weak transcription	Pancreas	Pancrea
22	chr14:65267400-65271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:65267400-65271800	Weak transcription	A549	lung
24	chr14:65267400-65271800	Weak transcription	NHEK	skin
25	chr14:65267400-65272400	Weak transcription	Hela-S3	cervix
26	chr14:65267400-65273200	Weak transcription	Fetal Heart	heart
27	chr14:65267800-65272000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
29	chr14:65268600-65272600	Weak transcription	Left Ventricle	heart
30	chr14:65269200-65270800	Weak transcription	Fetal Brain Female	brain
31	chr14:65269200-65271800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:65269200-65272600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:65269200-65274400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65269600-65272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:65270000-65271600	Weak transcription	K562	blood

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