Variant report

Variant	rs2269296
Chromosome Location	chr14:65274250-65274251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65230550..65232570-chr14:65272647..65274883,2	MCF-7	breast:
2	chr14:65272282..65274917-chr14:65276747..65279585,3	MCF-7	breast:
3	chr14:65272312..65275235-chr14:65380241..65382678,2	K562	blood:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1271040	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs151165	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1741464	0.86[ASN][1000 genomes]
rs1741466	0.87[CEU][hapmap];0.87[CHD][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs192036	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2038433	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269295	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2269297	0.87[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs229580	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs229581	0.83[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs229587	0.91[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs229588	0.96[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs229589	0.96[CEU][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs229591	0.92[CEU][hapmap];0.81[GIH][hapmap]
rs229628	0.83[CEU][hapmap]
rs229673	0.90[CHD][hapmap];0.93[GIH][hapmap]
rs230703	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs230704	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs368194	0.87[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs375510	0.87[EUR][1000 genomes]
rs3819928	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs433143	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902317	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2269296	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
3	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:65269200-65274400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:65270600-65274400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65271600-65274600	Enhancers	HMEC	breast
9	chr14:65271600-65274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:65271600-65274800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:65271800-65274400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:65271800-65274600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:65272400-65274600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:65272400-65274600	Enhancers	Hela-S3	cervix
15	chr14:65272400-65274600	Enhancers	HSMM	muscle
16	chr14:65272400-65275800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:65272600-65274400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:65272600-65274400	Enhancers	HSMMtube	muscle
19	chr14:65272600-65274800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65272600-65274800	Enhancers	Left Ventricle	heart
21	chr14:65272600-65275800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:65272800-65274400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:65273000-65279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:65273200-65274400	Enhancers	NHEK	skin
25	chr14:65273200-65274800	Enhancers	Fetal Heart	heart
26	chr14:65273200-65279000	Weak transcription	Pancreas	Pancrea
27	chr14:65273400-65277200	Weak transcription	Aorta	Aorta
28	chr14:65273400-65279000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:65273800-65274600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr14:65273800-65274600	Enhancers	Fetal Thymus	thymus
31	chr14:65273800-65274800	Enhancers	Right Atrium	heart
32	chr14:65273800-65275000	Enhancers	Right Ventricle	heart
33	chr14:65273800-65275200	Enhancers	Fetal Muscle Leg	muscle
34	chr14:65273800-65279000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:65273800-65287200	Weak transcription	K562	blood
36	chr14:65274000-65274400	Enhancers	Osteobl	bone
37	chr14:65274000-65274600	Enhancers	NH-A	brain
38	chr14:65274000-65274800	Enhancers	A549	lung
39	chr14:65274000-65278200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:65274200-65274400	Enhancers	Gastric	stomach
41	chr14:65274200-65274600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:65274200-65274800	Enhancers	Lung	lung
43	chr14:65274200-65275000	Enhancers	Fetal Muscle Trunk	muscle
44	chr14:65274200-65275800	Enhancers	Psoas Muscle	Psoas
45	chr14:65274200-65278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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