Variant report

Variant	rs2269304
Chromosome Location	chr14:65254054-65254055
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65247579..65249169-chr14:65252112..65254058,2	MCF-7	breast:
2	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11623771	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1256296	0.83[CEU][hapmap]
rs1268663	0.83[CEU][hapmap]
rs170736	0.83[CEU][hapmap]
rs1875053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs2269303	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2285007	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs230705	0.83[CEU][hapmap]
rs4899146	0.94[CEU][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4902315	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7157420	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.93[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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2269304	CHURC1	cis	multi-tissue	Pritchard
rs2269304	PPP2R5E	cis	parietal	SCAN
rs2269304	FLJ43390	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
8	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
12	chr14:65251400-65254200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:65251400-65254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:65251400-65257200	Weak transcription	Right Ventricle	heart
15	chr14:65251400-65257400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
18	chr14:65251800-65258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
20	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:65252800-65256600	Weak transcription	Left Ventricle	heart
22	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
23	chr14:65253000-65254200	Weak transcription	K562	blood
24	chr14:65253000-65255600	Enhancers	HUVEC	blood vessel
25	chr14:65253400-65255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:65253600-65254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:65253600-65254800	Weak transcription	HMEC	breast
28	chr14:65253600-65256600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:65253800-65254400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:65253800-65254800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:65253800-65255200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:65253800-65255200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:65253800-65255200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:65253800-65257800	Weak transcription	Fetal Stomach	stomach
35	chr14:65254000-65254400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:65254000-65282600	Weak transcription	Spleen	Spleen

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